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
RLF	6018	broad.mit.edu	37	1	40627264	40627264	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:40627264G>T	ENST00000372771.4	+	1	220	c.193G>T	c.(193-195)Gtg>Ttg	p.V65L		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	65					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GGAGCAAGAGGTGTCGGAGGT	0.662000													21	238					9.57634e-11	1.13693e-10	0.083992	1	0
RBBP6	5930	broad.mit.edu	37	16	24582366	24582366	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr16:24582366G>T	ENST00000319715.4	+	18	4411	c.3979G>T	c.(3979-3981)Gaa>Taa	p.E1327*	RBBP6_ENST00000348022.2_Nonsense_Mutation_p.E1293*|RBBP6_ENST00000381039.3_Nonsense_Mutation_p.E487*	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1327					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AGATGACTTTGAATCTGAAGA	0.338000													31	22					1.22384e-17	1.56686e-17	0.054565	1	0
LCE1A	353131	broad.mit.edu	37	1	152800071	152800071	+	Silent	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:152800071T>C	ENST00000335123.2	+	1	123	c.123T>C	c.(121-123)tcT>tcC	p.S41S		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	41	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			cTCCAGTCTCTTCCTGCTGCA	0.677000													55	121					0	0	0.048971	0	0
AZIN1	51582	broad.mit.edu	37	8	103842161	103842161	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr8:103842161T>C	ENST00000337198.5	-	10	2071	c.908A>G	c.(907-909)gAa>gGa	p.E303G	AZIN1_ENST00000347770.4_Missense_Mutation_p.E303G	NM_148174.2	NP_680479.1	O14977	AZIN1_HUMAN	antizyme inhibitor 1	303					polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	catalytic activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	9	Lung NSC(17;0.000143)|all_lung(17;0.000294)		OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)			TCCGGTTTTTTCTACTGGAAT	0.303000													45	40					0	0	0.048971	0	0
GCNT2	2651	broad.mit.edu	37	6	10587045	10587045	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr6:10587045G>A	ENST00000265012.4	+	1	1067	c.823G>A	c.(823-825)Gac>Aac	p.D275N	GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000316170.3_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000410107.1_Intron	NM_145655.3	NP_663630.2	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	275						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		AGACTTTGTCGACTTTGTTCT	0.408000													29	80					0	0	0.041601	0	0
MRE11A	4361	broad.mit.edu	37	11	94201034	94201034	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr11:94201034T>A	ENST00000323929.3	-	10	1265	c.1043A>T	c.(1042-1044)gAa>gTa	p.E348V	MRE11A_ENST00000393241.4_Missense_Mutation_p.E348V|MRE11A_ENST00000323977.3_Missense_Mutation_p.E348V|MRE11A_ENST00000407439.3_Missense_Mutation_p.E351V	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	348					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				ACGTTCCCGTTCAGCATTTTC	0.338000								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				21	39					0	0	0.099896	0	0
STON2	85439	broad.mit.edu	37	14	81744686	81744686	+	Silent	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr14:81744686T>C	ENST00000555447.1	-	6	1381	c.969A>G	c.(967-969)gtA>gtG	p.V323V	STON2_ENST00000267540.2_Silent_p.V323V	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	323					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		GGGAGGGCTGTACATCCTGCA	0.507000													19	99					0	0	0.049695	0	0
SPEF2	79925	broad.mit.edu	37	5	35779279	35779279	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr5:35779279T>G	ENST00000440995.2	+	30	4263	c.4263T>G	c.(4261-4263)aaT>aaG	p.N1421K	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000303129.4_De_novo_Start_InFrame|SPEF2_ENST00000356031.3_Missense_Mutation_p.N1426K			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1426					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)			AAATTCAGAATGAACTTTATT	0.373000													30	114					0	0	0.037714	0	0
QSOX1	5768	broad.mit.edu	37	1	180165560	180165560	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:180165560C>G	ENST00000367602.3	+	12	1706	c.1632C>G	c.(1630-1632)ttC>ttG	p.F544L	QSOX1_ENST00000367600.5_Missense_Mutation_p.F544L			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	544					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TCCTGGACTTCCCTGCAGCTG	0.617000													15	244					0	0	0.024245	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120345320	120345320	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr11:120345320A>G	ENST00000397843.2	+	32	3251	c.3085A>G	c.(3085-3087)Aag>Gag	p.K1029E	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.K926E|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.K1010E	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1029	PH.				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		ATTGGTTTGGAAGGTGAATAG	0.358000			T	MLL	AML								6	82					0	0	0.029380	0	0
ACTN1	87	broad.mit.edu	37	14	69341722	69341722	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr14:69341722T>C	ENST00000193403.6	-	21	2916	c.2533A>G	c.(2533-2535)Atg>Gtg	p.M845V	ACTN1_ENST00000394419.4_Missense_Mutation_p.M867V|ACTN1_ENST00000376839.3_Missense_Mutation_p.M775V|ACTN1_ENST00000438964.2_Missense_Mutation_p.M840V|ACTN1_ENST00000538545.2_Missense_Mutation_p.M883V	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	845					focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		AGCTCGTCCATGGTAATGTAG	0.672000													13	29					0	0	0.105934	0	0
ETNPPL	64850	broad.mit.edu	37	4	109670611	109670611	+	Missense_Mutation	SNP	T	T	A	rs113564708		TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr4:109670611T>A	ENST00000296486.3	-	8	864	c.710A>T	c.(709-711)cAc>cTc	p.H237L	ETNPPL_ENST00000510706.1_Missense_Mutation_p.H197L|ETNPPL_ENST00000512646.1_Missense_Mutation_p.H179L|ETNPPL_ENST00000411864.2_Missense_Mutation_p.H231L	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2			ethanolamine-phosphate phospho-lyase																		CCCTGCACCGTGTACATATCT	0.433000													41	38					0	0	0.098360	0	0
MGAT5B	146664	broad.mit.edu	37	17	74942482	74942482	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr17:74942482T>C	ENST00000569840.2	+	16	2447	c.1873T>C	c.(1873-1875)Tac>Cac	p.Y625H	MGAT5B_ENST00000301618.4_Missense_Mutation_p.Y623H|MGAT5B_ENST00000428789.2_Missense_Mutation_p.Y634H	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	625						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACCCTACGAGTACACCTGCGA	0.657000													9	22					0	0	0.069234	0	0
LGR6	59352	broad.mit.edu	37	1	202245610	202245610	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:202245610C>G	ENST00000367278.3	+	5	694	c.605C>G	c.(604-606)cCc>cGc	p.P202R	LGR6_ENST00000255432.7_Missense_Mutation_p.P150R|LGR6_ENST00000439764.2_Intron|LGR6_ENST00000308543.3_3'UTR	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	202						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						AGCCACATCCCCGACTACGCG	0.632000													8	28					0	0	0.058154	0	0
ZPLD1	131368	broad.mit.edu	37	3	102176646	102176646	+	Silent	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr3:102176646G>T	ENST00000306176.1	+	5	679	c.579G>T	c.(577-579)gtG>gtT	p.V193V	ZPLD1_ENST00000491959.1_Silent_p.V177V|ZPLD1_ENST00000466937.1_Silent_p.V177V	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	177	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CTATTTCTGTGAGAGAGAACA	0.383000													20	111					3.01185e-09	3.48366e-09	0.091800	1	0
TUBB8P7	197331	broad.mit.edu	37	16	90162555	90162555	+	RNA	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr16:90162555C>T	ENST00000567960.1	+	0	1291				TUBB8P7_ENST00000564451.1_RNA																							ATGCCACGGCCGAGGAGGAGG	0.522000													4	105					0	0	0.009096	0	0
FN3KRP	79672	broad.mit.edu	37	17	80676907	80676907	+	Silent	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr17:80676907G>A	ENST00000269373.6	+	2	340	c.267G>A	c.(265-267)gaG>gaA	p.E89E	FN3KRP_ENST00000535965.1_Silent_p.E39E	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	89							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)			TGGTGATGGAGCACATGGACA	0.527000													31	72					0	0	0.045705	0	0
PRKAR1B	5575	broad.mit.edu	37	7	590208	590208	+	Silent	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr7:590208C>A	ENST00000406797.1	-	11	1179	c.1005G>T	c.(1003-1005)cgG>cgT	p.R335R	PRKAR1B_ENST00000360274.4_Silent_p.R335R|PRKAR1B_ENST00000544935.1_Silent_p.R335R|PRKAR1B_ENST00000403562.1_Silent_p.R335R|PRKAR1B_ENST00000537384.1_Silent_p.R335R	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	335					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		CAGTGGCCGCCCGGGGCCGGT	0.662000													14	13					2.23348e-06	2.44685e-06	0.028581	1	0
TSIX	9383	broad.mit.edu	37	X	73043907	73043907	+	RNA	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chrX:73043907C>G	ENST00000604411.1	+	0	31868				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						TAAGAGTAATCAATGATCATT	0.323000													12	2					0	0	0.080935	0	0
KANK4	163782	broad.mit.edu	37	1	62734105	62734105	+	Silent	SNP	T	T	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:62734105T>A	ENST00000371153.4	-	5	2463	c.2085A>T	c.(2083-2085)gcA>gcT	p.A695A	KANK4_ENST00000371150.1_Silent_p.A51A|KANK4_ENST00000354381.3_Silent_p.A67A	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	695										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						ACTTCTTCTCTGCCTCGCTGT	0.587000													6	120					0	0	0.021553	0	0
AP3B1	8546	broad.mit.edu	37	5	77511942	77511942	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr5:77511942C>A	ENST00000255194.6	-	7	898	c.723G>T	c.(721-723)caG>caT	p.Q241H	AP3B1_ENST00000519295.1_Missense_Mutation_p.Q192H	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	241					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)		TTATGACAACCTGCCCCCACT	0.418000									Hermansky-Pudlak syndrome				35	39					6.57855e-14	8.189e-14	0.111260	1	0
KRTAP26-1	388818	broad.mit.edu	37	21	31692032	31692032	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr21:31692032G>T	ENST00000360542.3	-	1	575	c.322C>A	c.(322-324)Ctt>Att	p.L108I		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	108						intermediate filament				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						GATACTGGAAGGCAGGAACTG	0.527000													35	89					9.04072e-19	1.16857e-18	0.059317	1	0
PPP6C	5537	broad.mit.edu	37	9	127933458	127933458	+	Splice_Site	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr9:127933458C>A	ENST00000451402.1	-	3	408	c.186_splice	c.e3-1	p.R63_splice	PPP6C_ENST00000373546.3_5'UTR|PPP6C_ENST00000373547.4_Splice_Site_p.R26_splice|PPP6C_ENST00000415905.1_Splice_Site_p.R26_splice	NM_001123355.1	NP_001116827.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	26				LCEL -> AG (in Ref. 2; AAD45400).	G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						GTCACATAGCCGCTATAAAAA	0.333000													59	48					2.12129e-23	2.83013e-23	0.048971	1	0
WDR72	256764	broad.mit.edu	37	15	53908296	53908296	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr15:53908296A>G	ENST00000396328.1	-	15	2346	c.2107T>C	c.(2107-2109)Tct>Cct	p.S703P	WDR72_ENST00000557913.1_Missense_Mutation_p.S700P|WDR72_ENST00000559418.1_Missense_Mutation_p.S713P|WDR72_ENST00000360509.5_Missense_Mutation_p.S703P	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	703										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GAACTGGAAGAGTCAACATCA	0.428000													4	66					0	0	0.009096	0	0
ZNF107	51427	broad.mit.edu	37	7	64166760	64166760	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr7:64166760C>G	ENST00000395391.1	+	4	1453	c.78C>G	c.(76-78)ttC>ttG	p.F26L	ZNF107_ENST00000423627.1_Missense_Mutation_p.F26L|ZNF107_ENST00000344930.3_Missense_Mutation_p.F26L			Q9UII5	ZN107_HUMAN	zinc finger protein 107	26					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				AAGATTCTTTCCAGAAAGTGA	0.363000													16	68					0	0	0.062417	0	0
MMRN1	22915	broad.mit.edu	37	4	90856470	90856470	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr4:90856470T>C	ENST00000394980.1	+	7	1958	c.1639T>C	c.(1639-1641)Tct>Cct	p.S547P	MMRN1_ENST00000508372.1_Missense_Mutation_p.S289P|MMRN1_ENST00000264790.2_Missense_Mutation_p.S547P|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	547					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TGAGTACATGTCTACTTTACA	0.383000													12	63					0	0	0.093190	0	0
ZNF146	7705	broad.mit.edu	37	19	36728021	36728021	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr19:36728021C>G	ENST00000456324.1	+	3	2128	c.679C>G	c.(679-681)Ctc>Gtc	p.L227V	ZNF146_ENST00000443387.2_Missense_Mutation_p.L227V|ZNF565_ENST00000355114.5_Intron	NM_001099638.1|NM_001099639.1	NP_001093108.1|NP_001093109.1	Q15072	OZF_HUMAN	zinc finger protein 146	227	Interaction with TERF2IP.				regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding	p.L227F(1)		kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					GAGCTCATCTCTCACTGTGCA	0.443000													46	108					0	0	0.111260	0	0
NDUFS6	4726	broad.mit.edu	37	5	1816029	1816029	+	Nonstop_Mutation	SNP	A	A	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr5:1816029A>T	ENST00000274137.5	+	4	392	c.374A>T	c.(373-375)tAg>tTg	p.*125L		NM_004553.4	NP_004544.1	O75380	NDUS6_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)	0					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	7					NADH(DB00157)	CACCACCACTAGAGCGTGTGG	0.532000													28	96					0	0	0.034045	0	0
COL4A6	1288	broad.mit.edu	37	X	107434703	107434703	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chrX:107434703G>T	ENST00000394872.2	-	19	1475	c.1244C>A	c.(1243-1245)cCa>cAa	p.P415Q	COL4A6_ENST00000372216.4_Missense_Mutation_p.P415Q|COL4A6_ENST00000545689.1_Missense_Mutation_p.P414Q|COL4A6_ENST00000538570.1_Missense_Mutation_p.P414Q|COL4A6_ENST00000334504.7_Missense_Mutation_p.P414Q			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	415	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GGTACGGCCTGGGTTTCCTTG	0.557000									Alport syndrome with Diffuse Leiomyomatosis				79	34					1.07363e-35	1.48381e-35	0.048971	1	0
CDAN1	146059	broad.mit.edu	37	15	43028100	43028100	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr15:43028100T>C	ENST00000356231.3	-	3	769	c.746A>G	c.(745-747)gAg>gGg	p.E249G		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	249						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CTCTCGCTCCTCTTGCAGACT	0.607000													37	33					0	0	0.059317	0	0
ITLN1	55600	broad.mit.edu	37	1	160851746	160851746	+	Splice_Site	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:160851746C>T	ENST00000326245.3	-	4	521		c.e4+1			NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)						positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GTGGCACCAACCTTGTAGTCA	0.607000													9	182					0	0	0.058154	0	0
FLG	2312	broad.mit.edu	37	1	152286065	152286065	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:152286065C>G	ENST00000368799.1	-	3	1332	c.1297G>C	c.(1297-1299)Gac>Cac	p.D433H	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	433	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATTGTGTGTCTGAGTTTTCT	0.602000									Ichthyosis				71	408					0	0	0.048971	0	0
TBX4	9496	broad.mit.edu	37	17	59560456	59560456	+	Missense_Mutation	SNP	G	G	T	rs145825881		TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr17:59560456G>T	ENST00000393853.4	+	9	1383	c.1220G>T	c.(1219-1221)gGg>gTg	p.G407V	TBX4_ENST00000240335.1_Missense_Mutation_p.G406V|TBX4_ENST00000589449.1_Intron			P57082	TBX4_HUMAN	T-box 4	406					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GGGGTGTCTGGGGTGGACGAC	0.592000													45	53					8.48111e-28	1.15437e-27	0.048971	1	0
LPHN2	23266	broad.mit.edu	37	1	82447618	82447618	+	Silent	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:82447618G>A	ENST00000370728.1	+	21	3873	c.3228G>A	c.(3226-3228)caG>caA	p.Q1076Q	LPHN2_ENST00000370713.1_Silent_p.Q1063Q|LPHN2_ENST00000370721.1_Silent_p.Q1001Q|LPHN2_ENST00000370723.1_Silent_p.Q1078Q|LPHN2_ENST00000335786.5_Silent_p.Q1076Q|LPHN2_ENST00000359929.3_Silent_p.Q1063Q|LPHN2_ENST00000370715.1_Silent_p.Q1063Q|LPHN2_ENST00000370727.1_Silent_p.Q1091Q|LPHN2_ENST00000370730.1_Silent_p.Q1076Q|LPHN2_ENST00000370717.2_Silent_p.Q1091Q|LPHN2_ENST00000319517.6_Silent_p.Q1063Q|LPHN2_ENST00000394879.1_Silent_p.Q1078Q|LPHN2_ENST00000271029.4_Silent_p.Q1091Q|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370725.1_Silent_p.Q1091Q			O95490	LPHN2_HUMAN	latrophilin 2	1076					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ATGCTTTCCAGGGAGTGTTCA	0.373000													4	144					0	0	0.009096	0	0
IGKV2D-24	28885	broad.mit.edu	37	2	90044277	90044277	+	RNA	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr2:90044277C>A	ENST00000462693.1	+	0	228																											AGAGGCCAGGCCAGCCTCCAA	0.522000													100	108					1.44639e-49	2.03551e-49	0.048971	1	0
SMCO3	440087	broad.mit.edu	37	12	14959145	14959145	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr12:14959145G>T	ENST00000316048.2	-	2	542	c.470C>A	c.(469-471)gCt>gAt	p.A157D	C12orf60_ENST00000527783.1_Intron|C12orf60_ENST00000330828.2_Intron	NM_001013698.2	NP_001013720.2			single-pass membrane protein with coiled-coil domains 3																		AAGGAGAGAAGCACCAATTTG	0.463000													52	60					7.84493e-40	1.09829e-39	0.048971	1	0
MYH15	22989	broad.mit.edu	37	3	108175615	108175615	+	Silent	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr3:108175615T>C	ENST00000273353.3	-	20	2252	c.2196A>G	c.(2194-2196)caA>caG	p.Q732Q	MYH15_ENST00000495753.2_5'UTR	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	732	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AGGTTTACCTTTGTTTAAAAT	0.438000													13	118					0	0	0.105934	0	0
DSC3	1825	broad.mit.edu	37	18	28609478	28609478	+	Silent	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr18:28609478T>C	ENST00000434452.1	-	4	625	c.471A>G	c.(469-471)caA>caG	p.Q157Q	DSC3_ENST00000360428.4_Silent_p.Q157Q	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	157	Cadherin 1.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			AACCTACTTGTTGAAGAAACA	0.393000													44	53					0	0	0.042209	0	0
PHIP	55023	broad.mit.edu	37	6	79650459	79650459	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr6:79650459C>A	ENST00000275034.4	-	40	5584	c.5417G>T	c.(5416-5418)cGa>cTa	p.R1806L	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1806					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CTTTCGGACTCGTCCTCTACT	0.378000													6	41					2.0095e-06	2.21497e-06	0.029380	1	0
FRRS1	391059	broad.mit.edu	37	1	100206374	100206374	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:100206374G>A	ENST00000414213.1	-	6	1152	c.551C>T	c.(550-552)cCt>cTt	p.P184L	FRRS1_ENST00000287474.5_Missense_Mutation_p.P184L			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	184					electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		GGAAACGGGAGGTAACGTTGG	0.428000													20	113					0	0	0.062417	0	0
NELL1	4745	broad.mit.edu	37	11	20805357	20805357	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr11:20805357A>G	ENST00000298925.5	+	4	553	c.400A>G	c.(400-402)Att>Gtt	p.I134V	NELL1_ENST00000325319.5_Missense_Mutation_p.I106V|NELL1_ENST00000532434.1_Missense_Mutation_p.I106V|NELL1_ENST00000357134.5_Missense_Mutation_p.I106V			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	106	TSP N-terminal.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GATACTGTCCATTCGAGAACT	0.408000													10	79					0	0	0.058154	0	0
CC2D1B	200014	broad.mit.edu	37	1	52819278	52819278	+	Silent	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:52819278C>A	ENST00000371586.2	-	24	2628	c.2490G>T	c.(2488-2490)gtG>gtT	p.V830V	CC2D1B_ENST00000460261.1_5'UTR|RP11-155O18.6_ENST00000606527.1_RNA|CC2D1B_ENST00000284376.3_Silent_p.V824V	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	830										breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						GCCTCACCTTCACCTCCAGCT	0.612000													8	69					5.18039e-06	5.64087e-06	0.038147	1	0
HECW1	23072	broad.mit.edu	37	7	43351509	43351509	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr7:43351509G>A	ENST00000395891.1	+	4	780	c.175G>A	c.(175-177)Gat>Aat	p.D59N	HECW1_ENST00000453890.1_Missense_Mutation_p.D59N	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	59					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CGGCCCCCACGATGGCGTCAC	0.627000													8	86					0	0	0.058154	0	0
SAMSN1	64092	broad.mit.edu	37	21	15882676	15882676	+	Silent	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr21:15882676C>T	ENST00000285670.2	-	6	894	c.720G>A	c.(718-720)acG>acA	p.T240T	SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000400566.1_Silent_p.T172T	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	172					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		GCGTGAAATCCGTATGCACTC	0.483000													9	99					0	0	0.058154	0	0
GPR149	344758	broad.mit.edu	37	3	154146579	154146579	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr3:154146579C>A	ENST00000389740.2	-	1	925	c.826G>T	c.(826-828)Gga>Tga	p.G276*		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	276						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GCACCCGGTCCGAACACGGTG	0.672000													38	90					1.60099e-16	2.03043e-16	0.074837	1	0
GPC5	2262	broad.mit.edu	37	13	92345668	92345668	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr13:92345668G>C	ENST00000377067.3	+	3	925	c.553G>C	c.(553-555)Gac>Cac	p.D185H		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	185						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TGGTGTGACTGACAGTTCCCT	0.448000													5	157					0	0	0.021553	0	0
AP1M1	8907	broad.mit.edu	37	19	16339676	16339676	+	Silent	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr19:16339676G>A	ENST00000291439.3	+	9	1433	c.984G>A	c.(982-984)acG>acA	p.T328T	AP1M1_ENST00000444449.2_Silent_p.T340T|AP1M1_ENST00000590756.1_Silent_p.T256T|AP1M1_ENST00000541844.1_Silent_p.T256T|AP1M1_ENST00000429941.2_Intron	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	328	MHD.				cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|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			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						TCAAGACGACGGTGGGGAGCG	0.592000													32	15					0	0	0.050027	0	0
KRT6A	3853	broad.mit.edu	37	12	52884453	52884453	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr12:52884453C>A	ENST00000330722.6	-	5	1045	c.977G>T	c.(976-978)cGc>cTc	p.R326L		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	326	Linker 12.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GTCCAGGTTGCGGTTGTTGTC	0.537000													91	144					1.76421e-39	2.45713e-39	0.048971	1	0
USP16	10600	broad.mit.edu	37	21	30411359	30411359	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr21:30411359A>G	ENST00000334352.4	+	9	976	c.745A>G	c.(745-747)Ata>Gta	p.I249V	USP16_ENST00000399975.3_Missense_Mutation_p.I248V|USP16_ENST00000399976.2_Missense_Mutation_p.I249V|USP16_ENST00000535828.1_Intron	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN	ubiquitin specific peptidase 16	249					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						ACCATTAGAAATAAACCTTGA	0.373000													46	43					0	0	0.048971	0	0
FAT3	120114	broad.mit.edu	37	11	92534534	92534534	+	Silent	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr11:92534534C>T	ENST00000298047.6	+	9	8372	c.8355C>T	c.(8353-8355)gcC>gcT	p.A2785A	FAT3_ENST00000409404.2_Silent_p.A2785A|FAT3_ENST00000525166.1_Silent_p.A2635A			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2785	Cadherin 25.				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)				AAGTAGCAGCCACTATACCCC	0.428000										TCGA Ovarian(4;0.039)			20	45					0	0	0.062417	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159819654	159819654	+	RNA	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr3:159819654C>G	ENST00000497452.1	-	0	517																											AAGAAGAAAACCAGATGGAAC	0.502000													25	226					0	0	0.083992	0	0
REV3L	5980	broad.mit.edu	37	6	111698964	111698964	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr6:111698964T>C	ENST00000435970.1	-	14	2119	c.1303A>G	c.(1303-1305)Agt>Ggt	p.S435G	REV3L_ENST00000368805.1_Missense_Mutation_p.S513G|REV3L_ENST00000368802.3_Missense_Mutation_p.S513G|REV3L_ENST00000358835.3_Missense_Mutation_p.S513G			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	513					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AGAAGCAAACTGTTATCACTC	0.378000								DNA polymerases (catalytic subunits)					35	35					0	0	0.059317	0	0
NLRP6	171389	broad.mit.edu	37	11	282776	282776	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr11:282776T>G	ENST00000534750.1	+	5	2382	c.2177T>G	c.(2176-2178)cTg>cGg	p.L726R	NLRP6_ENST00000312165.5_Missense_Mutation_p.L727R	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	727						cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		ACTGACCCACTGTGCCATCTG	0.587000													6	75					0	0	0.021553	0	0
OSBP	5007	broad.mit.edu	37	11	59347700	59347700	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr11:59347700A>C	ENST00000263847.1	-	11	2304	c.1825T>G	c.(1825-1827)Tgt>Ggt	p.C609G		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	609					lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TTAAGATTACACTTGTCTCCT	0.333000													21	83					0	0	0.076483	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507111	74507111	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:74507111C>A	ENST00000354431.4	-	7	1695	c.1504G>T	c.(1504-1506)Gct>Tct	p.A502S	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.A502S	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	502										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AGAAACAGAGCTTTTCTCTCT	0.328000													40	92					2.66277e-13	3.27678e-13	0.092188	1	0
SNHG14	104472715	broad.mit.edu	37	15	25463854	25463854	+	RNA	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr15:25463854G>T	ENST00000424208.1	+	0	2994				SNHG14_ENST00000453082.2_RNA	NR_003305.1																						CCAGCCTGGGGGAGAATTTTG	0.532000													18	207					6.49762e-13	7.94153e-13	0.038395	1	0
CEP152	22995	broad.mit.edu	37	15	49030928	49030928	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr15:49030928T>C	ENST00000380950.2	-	27	4838	c.4651A>G	c.(4651-4653)Aaa>Gaa	p.K1551E	CEP152_ENST00000399334.3_Missense_Mutation_p.K1495E	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1495					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CCTTGACTTTTCTCAGATGCA	0.418000													23	17					0	0	0.083992	0	0
MCF2L2	23101	broad.mit.edu	37	3	183017802	183017802	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr3:183017802C>G	ENST00000328913.3	-	11	1593	c.1296G>C	c.(1294-1296)caG>caC	p.Q432H	MCF2L2_ENST00000414362.2_Missense_Mutation_p.Q432H|MCF2L2_ENST00000447025.2_Missense_Mutation_p.Q432H|MCF2L2_ENST00000473233.1_Missense_Mutation_p.Q432H	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	432					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CCTTGTCCAGCTGTCTATGAA	0.458000													12	188					0	0	0.024245	0	0
HMGB4	127540	broad.mit.edu	37	1	34330167	34330167	+	Silent	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:34330167G>A	ENST00000522796.1	+	4	2280	c.375G>A	c.(373-375)aaG>aaA	p.K125K	HMGB4_ENST00000519684.1_Silent_p.K125K|HMGB4_ENST00000425537.1_3'UTR|CSMD2_ENST00000373381.4_Intron			B2R4X7	B2R4X7_HUMAN	high mobility group box 4	125						nucleus	DNA binding			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AGGTGGCCAAGGCCACAGGGA	0.547000													40	147					0	0	0.098360	0	0
CTNND2	1501	broad.mit.edu	37	5	11411696	11411696	+	Silent	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr5:11411696G>A	ENST00000304623.8	-	5	580	c.391C>T	c.(391-393)Cta>Tta	p.L131L	CTNND2_ENST00000503622.1_Silent_p.L40L|CTNND2_ENST00000511377.1_Silent_p.L40L|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000359640.2_Silent_p.L131L	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	131					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GATTCCTGTAGTGACCTAATA	0.373000													50	66					0	0	0.048971	0	0
CPE	1363	broad.mit.edu	37	4	166403509	166403509	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr4:166403509G>C	ENST00000402744.4	+	4	1068	c.788G>C	c.(787-789)aGt>aCt	p.S263T		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	263					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GAGACGCGGAGTGGTAGGTAT	0.368000													22	57					0	0	0.076483	0	0
RIT2	6014	broad.mit.edu	37	18	40554087	40554087	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr18:40554087C>G	ENST00000589109.1	-	3	357	c.186G>C	c.(184-186)agG>agC	p.R62S	RIT2_ENST00000282028.4_Missense_Mutation_p.R62S|RIT2_ENST00000590910.1_Missense_Mutation_p.R62S|RIT2_ENST00000326695.5_Missense_Mutation_p.R62S	NM_001272077.1	NP_001259006.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	62					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CATTGTCAATCCTGACCTGGG	0.363000													10	30					0	0	0.069234	0	0
VPS41	27072	broad.mit.edu	37	7	38805189	38805189	+	Silent	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr7:38805189T>C	ENST00000310301.4	-	16	1374	c.1320A>G	c.(1318-1320)ggA>ggG	p.G440G	VPS41_ENST00000395969.2_Silent_p.G415G	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	440					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CCTTAAGCTGTCCAATTTCTT	0.338000													4	59					0	0	0.014758	0	0
KDM4C	23081	broad.mit.edu	37	9	6990504	6990504	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr9:6990504A>T	ENST00000381309.3	+	12	2331	c.1766A>T	c.(1765-1767)cAg>cTg	p.Q589L	KDM4C_ENST00000535193.1_Missense_Mutation_p.Q611L|KDM4C_ENST00000442236.2_Intron|KDM4C_ENST00000428870.2_Missense_Mutation_p.Q276L|KDM4C_ENST00000536108.1_Missense_Mutation_p.Q408L|KDM4C_ENST00000381306.3_Missense_Mutation_p.Q589L|KDM4C_ENST00000543771.1_Missense_Mutation_p.Q589L	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	589					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						CTTGTGAAGCAGCAGGCGCCA	0.408000													10	23					0	0	0.069234	0	0
OR5V1	81696	broad.mit.edu	37	6	29323494	29323494	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr6:29323494G>C	ENST00000377154.1	-	4	778	c.479C>G	c.(478-480)aCa>aGa	p.T160R	OR5V1_ENST00000543825.1_Missense_Mutation_p.T160R			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGTCAACACTGTATGCACCAC	0.438000													7	78					0	0	0.029380	0	0
ST8SIA6	338596	broad.mit.edu	37	10	17362880	17362880	+	Silent	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr10:17362880G>T	ENST00000377602.4	-	8	1268	c.1194C>A	c.(1192-1194)gcC>gcA	p.A398A		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	398					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						ACTTTGTTTAGGCGACTTCAC	0.368000													38	86					4.11147e-13	5.03656e-13	0.064281	1	0
OR5AR1	219493	broad.mit.edu	37	11	56431909	56431909	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr11:56431909C>A	ENST00000302969.2	+	1	772	c.748C>A	c.(748-750)Ctc>Atc	p.L250I		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TGGCATCACCCTCTTCTATGG	0.507000													37	69					1.08052e-11	1.29135e-11	0.069456	1	0
ZNF618	114991	broad.mit.edu	37	9	116811415	116811415	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr9:116811415C>G	ENST00000288466.7	+	14	1653	c.1554C>G	c.(1552-1554)atC>atG	p.I518M	ZNF618_ENST00000374126.5_Missense_Mutation_p.I611M|ZNF618_ENST00000470105.1_3'UTR	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	611					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I611I(1)|p.I518I(1)		breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						TGTCGGAGATCAGGACAGTGT	0.607000													44	43					0	0	0.045515	0	0
MIP	4284	broad.mit.edu	37	12	56848359	56848359	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr12:56848359T>C	ENST00000257979.4	-	1	67	c.39A>G	c.(37-39)atA>atG	p.I13M	MIP_ENST00000555551.1_Intron	NM_012064.3	NP_036196.1	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	13					response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						ACTCAGCGAATATGGCCCTCC	0.602000													40	78					0	0	0.042209	0	0
RBAK	57786	broad.mit.edu	37	7	5112803	5112803	+	Missense_Mutation	SNP	C	C	T	rs141093707		TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr7:5112803C>T	ENST00000407184.1	+	8	952	c.686C>T	c.(685-687)aCc>aTc	p.T229I	RBAK_ENST00000396904.2_3'UTR|RBAK_ENST00000498308.1_3'UTR			Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	0	Required for interaction with RB1.		G -> E (in dbSNP:rs35352738).		negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		CCTCTCCAGACCCCACCCCCA	0.572000													31	58					0	0	0.054565	0	0
FMO1	2326	broad.mit.edu	37	1	171244541	171244541	+	Missense_Mutation	SNP	G	G	T	rs28360397	byFrequency	TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:171244541G>T	ENST00000354841.4	+	3	509	c.378G>T	c.(376-378)gaG>gaT	p.E126D	FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Missense_Mutation_p.E63D|FMO1_ENST00000367750.3_Missense_Mutation_p.E126D			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	126					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCCAATGGGAGGTGGTCACTA	0.433000													52	83					1.51926e-22	2.01694e-22	0.048971	1	0
TFAP2D	83741	broad.mit.edu	37	6	50696669	50696669	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr6:50696669G>T	ENST00000008391.3	+	4	927	c.699G>T	c.(697-699)gaG>gaT	p.E233D	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	233							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CCATTGCTGAGGTAAAGAGGC	0.488000													43	49					1.32136e-16	1.67974e-16	0.104719	1	0
MIR181A1	406995	broad.mit.edu	37	1	198828243	198828243	+	RNA	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:198828243C>G	ENST00000385026.1	-	0	39					NR_029626.1																						CCAAACTCACCGACAGCGTTG	0.418000													8	159					0	0	0.038147	0	0
OR51F2	119694	broad.mit.edu	37	11	4843054	4843054	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr11:4843054A>G	ENST00000322110.5	+	1	504	c.439A>G	c.(439-441)Act>Gct	p.T147A	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTGAGATACACTACCATCCT	0.458000													9	185					0	0	0.047766	0	0
WFDC2	10406	broad.mit.edu	37	20	44108642	44108642	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr20:44108642A>T	ENST00000342873.3	+	1	564	c.131A>T	c.(130-132)gAc>gTc	p.D44V	WFDC2_ENST00000488143.1_3'UTR|WFDC2_ENST00000372676.3_Missense_Mutation_p.D95V|WFDC2_ENST00000339946.3_Missense_Mutation_p.D47V			Q14508	WFDC2_HUMAN	WAP four-disulfide core domain 2	95	WAP 1.				proteolysis|spermatogenesis	extracellular space	serine-type endopeptidase inhibitor activity			lung(1)	1		Myeloproliferative disorder(115;0.0122)				CTCTGTCGGGACCAGTGCCAG	0.557000													92	158					0	0	0.048971	0	0
TGFBR3	7049	broad.mit.edu	37	1	92327203	92327203	+	Splice_Site	SNP	T	T	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:92327203T>A	ENST00000212355.4	-	2	353		c.e2-2		TGFBR3_ENST00000370399.2_Splice_Site	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III						BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TCAAACTGCCTGTAAAACAAA	0.353000													9	5					0	0	0.047766	0	0
OR6C68	403284	broad.mit.edu	37	12	55886732	55886732	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr12:55886732T>A	ENST00000379662.1	+	1	586	c.586T>A	c.(586-588)Tca>Aca	p.S196T	OR6C68_ENST00000548615.1_Missense_Mutation_p.S191T|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA			A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C, member 68	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						CTCAGACACATCATTAATTGA	0.353000													19	23					0	0	0.038395	0	0
MACROD2	140733	broad.mit.edu	37	20	16025282	16025282	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr20:16025282T>C	ENST00000402914.1	+	13	1055	c.593T>C	c.(592-594)aTa>aCa	p.I198T	MACROD2_ENST00000310348.4_Missense_Mutation_p.I433T|MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000378058.3_Missense_Mutation_p.I198T|MACROD2_ENST00000407045.3_Missense_Mutation_p.I84T	NM_001033087.1	NP_001028259.1	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	433	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GATCAACTAATAGGTAAGATG	0.373000													6	88					0	0	0.021553	0	0
C21orf91	54149	broad.mit.edu	37	21	19165829	19165829	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr21:19165829T>A	ENST00000284881.4	-	5	887	c.797A>T	c.(796-798)cAc>cTc	p.H266L	C21orf91_ENST00000400558.3_3'UTR|C21orf91_ENST00000400559.3_Missense_Mutation_p.H265L|AL109761.5_ENST00000428689.1_RNA	NM_001100420.1|NM_017447.3	NP_001093890.1|NP_059143.3	Q9NYK6	EURL_HUMAN	chromosome 21 open reading frame 91	266										endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		GATGGCAACGTGGCGGACATG	0.413000													23	24					0	0	0.076483	0	0
VPS8	23355	broad.mit.edu	37	3	184711794	184711794	+	Silent	SNP	A	A	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr3:184711794A>G	ENST00000287546.4	+	42	3780	c.3609A>G	c.(3607-3609)aaA>aaG	p.K1203K	VPS8_ENST00000437079.3_Silent_p.K1203K|VPS8_ENST00000436792.2_Silent_p.K1201K|VPS8_ENST00000446204.2_Silent_p.K1111K	NM_015303.3	NP_056118.2	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1203							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			GAAAAGGAAAACTTGGAGAAA	0.308000													2	4					0	0	0.004672	0	0
SELO	83642	broad.mit.edu	37	22	50655551	50655551	+	Silent	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr22:50655551C>T	ENST00000380903.2	+	8	1897	c.1839C>T	c.(1837-1839)ttC>ttT	p.F613F	RP3-402G11.5_ENST00000492092.1_3'UTR	NM_031454.1	NP_113642.1																					GCGGGGACTTCTCAGAGGCAA	0.652000													8	62					0	0	0.038147	0	0
CUL9	23113	broad.mit.edu	37	6	43154012	43154012	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr6:43154012G>A	ENST00000252050.4	+	4	1154	c.1070G>A	c.(1069-1071)aGa>aAa	p.R357K	CUL9_ENST00000372647.2_Missense_Mutation_p.R357K|CUL9_ENST00000354495.3_Missense_Mutation_p.R357K	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	357					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						ACCACCCCCAGAAGACAAGGG	0.592000													22	74					0	0	0.069288	0	0
OR5D14	219436	broad.mit.edu	37	11	55563766	55563766	+	Silent	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr11:55563766C>A	ENST00000335605.1	+	1	735	c.735C>A	c.(733-735)tcC>tcA	p.S245S		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				CCTGGGCCTCCCACCTGACTT	0.463000													20	101					3.10358e-05	3.31911e-05	0.069288	1	0
PRICKLE2	166336	broad.mit.edu	37	3	64085326	64085326	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr3:64085326C>G	ENST00000295902.6	-	8	2521	c.1936G>C	c.(1936-1938)Gat>Cat	p.D646H	RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.D702H|PRICKLE2-AS1_ENST00000476308.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	646						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		ATCCCTCCATCAAAATCAAAG	0.587000													4	83					0	0	0.009096	0	0
XIRP2	129446	broad.mit.edu	37	2	168107994	168107994	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr2:168107994A>G	ENST00000409195.1	+	9	10181	c.10092A>G	c.(10090-10092)atA>atG	p.I3364M	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.I3364M|XIRP2_ENST00000409273.1_Missense_Mutation_p.I3142M|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3189					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACCATAACATACAACAAGAAA	0.363000													66	81					0	0	0.048971	0	0
NCAM2	4685	broad.mit.edu	37	21	22658659	22658659	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr21:22658659C>A	ENST00000400546.1	+	4	657	c.408C>A	c.(406-408)tgC>tgA	p.C136*	NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000284894.7_Intron|NCAM2_ENST00000535285.1_Nonsense_Mutation_p.C161*	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	136	Ig-like C2-type 2.				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)		AAGTGGTTTGCCGAGTTAGCA	0.398000													7	39					0.000157383	0.000165683	0.038147	1	0
KCND2	3751	broad.mit.edu	37	7	119915304	119915304	+	Silent	SNP	A	A	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr7:119915304A>G	ENST00000331113.4	+	1	1583	c.618A>G	c.(616-618)acA>acG	p.T206T		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	206					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TGGTGGAAACAGTGCCGTGCG	0.562000													7	91					0	0	0.058154	0	0
PCDH11X	27328	broad.mit.edu	37	X	91133547	91133547	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chrX:91133547C>G	ENST00000373094.1	+	2	3153	c.2308C>G	c.(2308-2310)Ctg>Gtg	p.L770V	PCDH11X_ENST00000373097.1_Missense_Mutation_p.L770V|PCDH11X_ENST00000361655.2_Missense_Mutation_p.L770V|PCDH11X_ENST00000361724.1_Missense_Mutation_p.L770V|PCDH11X_ENST00000395337.2_Missense_Mutation_p.L770V|PCDH11X_ENST00000298274.8_Missense_Mutation_p.L770V|PCDH11X_ENST00000373088.1_Missense_Mutation_p.L770V|PCDH11X_ENST00000504220.1_Missense_Mutation_p.L770V|PCDH11X_ENST00000406881.1_Missense_Mutation_p.L770V	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	770	Cadherin 7.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AATTGTCAATCTGTTCGTGAA	0.433000													12	119					0	0	0.105934	0	0
PRODH2	58510	broad.mit.edu	37	19	36297721	36297721	+	Silent	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr19:36297721G>T	ENST00000301175.3	-	7	935	c.918C>A	c.(916-918)gcC>gcA	p.A306A		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	306					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCACGTGCTGGGCCCGGGCAT	0.682000													4	14					0.00909568	0.00930279	0.009096	1	0
DOK6	220164	broad.mit.edu	37	18	67068488	67068488	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr18:67068488C>G	ENST00000382713.5	+	1	198	c.8C>G	c.(7-9)tCc>tGc	p.S3C		NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	3							insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GCCATGGCCTCCAACTTTAAC	0.672000													4	8					0	0	0.009096	0	0
OR2T6	254879	broad.mit.edu	37	1	248551610	248551610	+	Missense_Mutation	SNP	G	G	A	rs138116574	by1000genomes	TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:248551610G>A	ENST00000355728.2	+	1	701	c.701G>A	c.(700-702)aGg>aAg	p.R234K		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	234					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)			GCTGAAGGGAGGAAGAAGGCC	0.522000													42	114					0	0	0.042209	0	0
AHNAK	79026	broad.mit.edu	37	11	62288267	62288267	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr11:62288267A>G	ENST00000378024.4	-	5	13896	c.13622T>C	c.(13621-13623)gTt>gCt	p.V4541A	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4541					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CAGTTTAGGAACGGAAATGTC	0.423000													14	79					0	0	0.105934	0	0
NPR1	4881	broad.mit.edu	37	1	153660672	153660672	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:153660672C>T	ENST00000368680.3	+	15	2864	c.2392C>T	c.(2392-2394)Cgc>Tgc	p.R798C		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	798	Protein kinase.				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	CCAGCAGATCCGCCTGACGTT	0.607000													8	113					0	0	0.058154	0	0
MACF1	23499	broad.mit.edu	37	1	39782939	39782939	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:39782939G>T	ENST00000564288.1	+	29	4419	c.3642G>T	c.(3640-3642)gaG>gaT	p.E1214D	MACF1_ENST00000539005.1_Missense_Mutation_p.E1219D|MACF1_ENST00000361689.2_Missense_Mutation_p.E1219D|MACF1_ENST00000317713.7_Missense_Mutation_p.E1219D|MACF1_ENST00000545844.1_Missense_Mutation_p.E1219D|MACF1_ENST00000372915.3_Missense_Mutation_p.E1219D|MACF1_ENST00000567887.1_Missense_Mutation_p.E1251D|MACF1_ENST00000476350.1_3'UTR			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1219					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCCTGGATGAGGAAATTGCCA	0.468000													14	142					1.49906e-05	1.61276e-05	0.020292	1	0
GALNT2	2590	broad.mit.edu	37	1	230371793	230371793	+	Silent	SNP	G	G	T	rs142508727		TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:230371793G>T	ENST00000366672.4	+	4	480	c.408G>T	c.(406-408)ccG>ccT	p.P136P	GALNT2_ENST00000541865.1_Silent_p.P46P|GALNT2_ENST00000543760.1_Silent_p.P98P	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	136	Catalytic subdomain A.				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				TGGATCTGCCGGCCACCAGCG	0.582000													12	23					1.08611e-07	1.22215e-07	0.080935	1	0
LMX1B	4010	broad.mit.edu	37	9	129455846	129455846	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr9:129455846T>C	ENST00000355497.5	+	5	792	c.785T>C	c.(784-786)gTg>gCg	p.V262A	LMX1B_ENST00000526117.1_Missense_Mutation_p.V262A|LMX1B_ENST00000373474.4_Missense_Mutation_p.V262A|LMX1B_ENST00000425646.2_Missense_Mutation_p.V239A|LMX1B_ENST00000561065.1_Missense_Mutation_p.V239A	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	239	Poly-Gln.				dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						AGTGTGCGCGTGGTCCAGGTC	0.642000									Nail-Patella Syndrome				3	36					0	0	0.004672	0	0
VAMP7	6845	broad.mit.edu	37	X	155119183	155119183	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chrX:155119183T>A	ENST00000286448.6	+	2	219	c.54T>A	c.(52-54)caT>caA	p.H18Q	VAMP7_ENST00000262640.6_Missense_Mutation_p.H18Q|VAMP7_ENST00000479687.1_3'UTR|VAMP7_ENST00000460621.1_Missense_Mutation_p.H18Q	NM_001145149.2|NM_005638.5	NP_001138621.1|NP_005629.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	18	Longin.				calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding			large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTGCCAAACATGCTTGGTGTG	0.428000													10	100					0	0	0.069234	0	0
UBR2	23304	broad.mit.edu	37	6	42615858	42615858	+	Silent	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr6:42615858G>A	ENST00000372899.1	+	22	2670	c.2412G>A	c.(2410-2412)gaG>gaA	p.E804E	UBR2_ENST00000372883.3_Silent_p.E308E|UBR2_ENST00000372901.1_Silent_p.E804E	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	804					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			ACCTTTAGGAGAACAAGGAGA	0.368000													17	132					0	0	0.049695	0	0
TIMM44	10469	broad.mit.edu	37	19	7998446	7998446	+	Silent	SNP	C	C	T	rs41539862		TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr19:7998446C>T	ENST00000270538.3	-	7	961	c.693G>A	c.(691-693)ctG>ctA	p.L231L		NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	231					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						GCACGACCCCCAGGGCCTCCC	0.652000													42	185					0	0	0.092188	0	0
MYO18B	84700	broad.mit.edu	37	22	26176070	26176070	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr22:26176070G>A	ENST00000335473.7	+	9	2366	c.2116G>A	c.(2116-2118)Gtg>Atg	p.V706M	MYO18B_ENST00000407587.2_Missense_Mutation_p.V706M|MYO18B_ENST00000536101.1_Missense_Mutation_p.V706M	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	706	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						CTTCGGCTCTGTGTCCATGGC	0.627000													4	5					0	0	0.014758	0	0
PCSK7	9159	broad.mit.edu	37	11	117100204	117100204	+	Silent	SNP	A	A	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr11:117100204A>T	ENST00000320934.3	-	3	987	c.357T>A	c.(355-357)gcT>gcA	p.A119A		NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	119					peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		CAGCCAACACAGCCTCCACCT	0.657000			T	IGH@	MLCLS								7	131					0	0	0.029380	0	0
ABCA5	23461	broad.mit.edu	37	17	67286110	67286110	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr17:67286110C>A	ENST00000392676.3	-	13	1739	c.1675G>T	c.(1675-1677)Ggc>Tgc	p.G559C	ABCA5_ENST00000392677.2_Missense_Mutation_p.G559C|ABCA5_ENST00000588877.1_Missense_Mutation_p.G559C			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	559	ABC transporter 1.				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					GGACAAATGCCAATCATTTTT	0.299000													24	38					1.64293e-13	2.03573e-13	0.083992	1	0
ZNF99	7652	broad.mit.edu	37	19	22939740	22939740	+	Splice_Site	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr19:22939740C>A	ENST00000397104.3	-	6	2590		c.e6+1							zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAAAGCTTTACCACATTCTTC	0.348000													19	32					9.7654e-05	0.000103207	0.043863	1	0
OR52A4P	390053	broad.mit.edu	37	11	5142482	5142482	+	RNA	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr11:5142482G>T	ENST00000498233.1	-	0	916																				breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		CTTGAAATGTGTGGATGAGCC	0.463000													18	24					1.99824e-07	2.23919e-07	0.033300	1	0
KCNC2	3747	broad.mit.edu	37	12	75444443	75444443	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr12:75444443A>T	ENST00000549446.1	-	3	2022	c.1342T>A	c.(1342-1344)Tgg>Agg	p.W448R	KCNC2_ENST00000548513.1_Missense_Mutation_p.W448R|KCNC2_ENST00000393288.2_Missense_Mutation_p.W448R|KCNC2_ENST00000550433.1_Missense_Mutation_p.W448R|KCNC2_ENST00000350228.2_Missense_Mutation_p.W448R|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000540018.1_Missense_Mutation_p.W448R|KCNC2_ENST00000341669.3_Missense_Mutation_p.W448R|KCNC2_ENST00000298972.1_Missense_Mutation_p.W448R	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	448					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						ATGCCTGACCATGTTTGGGGG	0.502000													20	53					0	0	0.049695	0	0
PLEC	5339	broad.mit.edu	37	8	144992757	144992757	+	Silent	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr8:144992757C>A	ENST00000322810.4	-	32	11812	c.11643G>T	c.(11641-11643)gtG>gtT	p.V3881V	PLEC_ENST00000398774.2_Silent_p.V3712V|PLEC_ENST00000354589.3_Silent_p.V3744V|PLEC_ENST00000436759.2_Silent_p.V3771V|PLEC_ENST00000354958.2_Silent_p.V3722V|PLEC_ENST00000357649.2_Silent_p.V3748V|PLEC_ENST00000356346.3_Silent_p.V3730V|PLEC_ENST00000345136.3_Silent_p.V3744V|PLEC_ENST00000527096.1_Silent_p.V3767V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3881	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CAGCCTCATCCACAGTCAGCC	0.701000													32	10					1.74807e-11	2.08453e-11	0.045705	1	0
FCAR	2204	broad.mit.edu	37	19	55396647	55396647	+	Splice_Site	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr19:55396647G>T	ENST00000355524.3	+	3	81	c.70_splice	c.e3-1	p.G24_splice	FCAR_ENST00000359272.4_Splice_Site_p.G12_splice|FCAR_ENST00000353758.4_Intron|FCAR_ENST00000469767.1_Splice_Site_p.G24_splice|FCAR_ENST00000391725.3_Splice_Site_p.G24_splice|FCAR_ENST00000391724.3_Splice_Site_p.G12_splice|FCAR_ENST00000391726.3_Splice_Site_p.G12_splice|FCAR_ENST00000345937.4_Splice_Site_p.G24_splice|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391723.3_Splice_Site_p.G12_splice	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	24					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		TTTCTTCCAGGGGACTTTCCC	0.488000													13	35					9.31168e-06	1.01189e-05	0.105934	1	0
NEB	4703	broad.mit.edu	37	2	152426637	152426637	+	Silent	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr2:152426637G>A	ENST00000427231.2	-	109	17590	c.17388C>T	c.(17386-17388)aaC>aaT	p.N5796N	NEB_ENST00000603639.1_Silent_p.N5796N|NEB_ENST00000409198.1_Silent_p.N4095N|NEB_ENST00000604864.1_Silent_p.N5796N|NEB_ENST00000172853.10_Silent_p.N4095N|NEB_ENST00000397345.3_Silent_p.N5796N	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	5810					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GAATCACATCGTTCTGGTCGG	0.507000													3	12					0	0	0.004672	0	0
EPB41L3	23136	broad.mit.edu	37	18	5419879	5419879	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr18:5419879G>A	ENST00000540638.2	-	12	1770	c.1391C>T	c.(1390-1392)gCa>gTa	p.A464V	EPB41L3_ENST00000544123.1_Missense_Mutation_p.A464V|EPB41L3_ENST00000400111.3_Missense_Mutation_p.A464V|EPB41L3_ENST00000342933.3_Intron|EPB41L3_ENST00000341928.2_Intron|EPB41L3_ENST00000542652.2_5'UTR			Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	446	Hydrophilic.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						ACCAACCTCTGCAGCAGACAT	0.428000													32	40					0	0	0.080422	0	0
PROKR2	128674	broad.mit.edu	37	20	5283145	5283145	+	Silent	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr20:5283145G>A	ENST00000546004.1	-	3	942	c.696C>T	c.(694-696)ttC>ttT	p.F232F	PROKR2_ENST00000217270.3_Silent_p.F232F			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	232						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CAGGGCCCACGAACTCGACAC	0.557000										HNSCC(71;0.22)			30	102					0	0	0.034045	0	0
GRIN2B	2904	broad.mit.edu	37	12	14018784	14018784	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr12:14018784A>T	ENST00000279593.3	-	2	568	c.359T>A	c.(358-360)cTc>cAc	p.L120H		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	120					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GATGGGGGTGAGAGTCTGTGC	0.552000													12	153					0	0	0.080935	0	0
RXRG	6258	broad.mit.edu	37	1	165370517	165370517	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:165370517G>T	ENST00000359842.5	-	10	1677	c.1375C>A	c.(1375-1377)Ccg>Acg	p.P459T		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	459	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	ATCTGCAGCGGGGTCTCCAAC	0.602000													35	76					1.36161e-19	1.77273e-19	0.069456	1	0
KCNC2	3747	broad.mit.edu	37	12	75444442	75444442	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr12:75444442C>A	ENST00000549446.1	-	3	2023	c.1343G>T	c.(1342-1344)tGg>tTg	p.W448L	KCNC2_ENST00000548513.1_Missense_Mutation_p.W448L|KCNC2_ENST00000393288.2_Missense_Mutation_p.W448L|KCNC2_ENST00000550433.1_Missense_Mutation_p.W448L|KCNC2_ENST00000350228.2_Missense_Mutation_p.W448L|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000540018.1_Missense_Mutation_p.W448L|KCNC2_ENST00000341669.3_Missense_Mutation_p.W448L|KCNC2_ENST00000298972.1_Missense_Mutation_p.W448L	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	448					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.W448L(5)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						CATGCCTGACCATGTTTGGGG	0.507000													20	53					0.000132079	0.000139316	0.049695	1	0
TNR	7143	broad.mit.edu	37	1	175375846	175375846	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:175375846C>A	ENST00000367674.1	-	3	713	c.5G>T	c.(4-6)gGg>gTg	p.G2V	TNR_ENST00000263525.2_Missense_Mutation_p.G2V	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	2					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCCATCTGCCCCCATCCTCTC	0.532000													59	106					9.53615e-21	1.25366e-20	0.048971	1	0
SLC6A9	6536	broad.mit.edu	37	1	44468263	44468263	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:44468263C>T	ENST00000372310.3	-	7	944	c.779G>A	c.(778-780)cGc>cAc	p.R260H	SLC6A9_ENST00000372306.3_Missense_Mutation_p.R260H|SLC6A9_ENST00000537678.1_Missense_Mutation_p.R195H|SLC6A9_ENST00000357730.2_Missense_Mutation_p.R279H|SLC6A9_ENST00000360584.2_Missense_Mutation_p.R333H|SLC6A9_ENST00000475075.2_Missense_Mutation_p.R149H|SLC6A9_ENST00000372307.3_Missense_Mutation_p.R195H	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	333						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GGTCACTCCGCGGACAAACAG	0.602000													45	300					0	0	0.039052	0	0
HMGCR	3156	broad.mit.edu	37	5	74656147	74656147	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr5:74656147T>C	ENST00000287936.4	+	20	2803	c.2647T>C	c.(2647-2649)Tgc>Cgc	p.C883R	HMGCR_ENST00000343975.5_Missense_Mutation_p.C830R|HMGCR_ENST00000511206.1_Missense_Mutation_p.C883R	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	883	Catalytic.				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CCAAGGAGCTTGCACCAAGAA	0.378000													11	6					0	0	0.024245	0	0
TRBV7-1	28597	broad.mit.edu	37	7	142032451	142032451	+	RNA	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr7:142032451G>T	ENST00000547918.2	+	0	304																											GAGGTCTGAGGGATCCATCTC	0.572000													17	27					2.48551e-13	3.06565e-13	0.033300	1	0
TNFRSF19	55504	broad.mit.edu	37	13	24243246	24243246	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr13:24243246C>T	ENST00000382258.4	+	9	1459	c.1255C>T	c.(1255-1257)Cga>Tga	p.R419*	TNFRSF19_ENST00000382263.3_Intron|TNFRSF19_ENST00000248484.4_Intron|TNFRSF19_ENST00000403372.2_Intron	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	419					apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		GGTAAGGCAGCGACTGGGTTC	0.493000													7	50					0	0	0.029380	0	0
WNT1	7471	broad.mit.edu	37	12	49373420	49373420	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr12:49373420G>C	ENST00000293549.3	+	2	310	c.274G>C	c.(274-276)Gag>Cag	p.E92Q		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	92					brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		TGCCGTGCGCGAGTGCAAGTG	0.642000													4	91					0	0	0.014758	0	0
FOLR1	2348	broad.mit.edu	37	11	71906378	71906378	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr11:71906378G>A	ENST00000393679.1	+	3	668	c.232G>A	c.(232-234)Gtt>Att	p.V78I	FOLR1_ENST00000393676.3_Missense_Mutation_p.V78I|FOLR1_ENST00000393681.2_Missense_Mutation_p.V78I|FOLR1_ENST00000312293.4_Missense_Mutation_p.V78I|RP11-807H22.7_ENST00000378140.3_RNA			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	78					cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						CCATAAGGATGTTTCCTACCT	0.542000													99	183					0	0	0.048971	0	0
OR5D14	219436	broad.mit.edu	37	11	55563767	55563767	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr11:55563767C>A	ENST00000335605.1	+	1	736	c.736C>A	c.(736-738)Cac>Aac	p.H246N		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				CTGGGCCTCCCACCTGACTTC	0.458000													20	102					3.10358e-05	3.31911e-05	0.069288	1	0
OR8A1	390275	broad.mit.edu	37	11	124440190	124440190	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr11:124440190A>T	ENST00000284287.3	+	1	298	c.226A>T	c.(226-228)Atg>Ttg	p.M76L		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		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;0.0214)		GCACACCCCCATGTACTACTT	0.488000													7	212					0	0	0.029380	0	0
NEB	4703	broad.mit.edu	37	2	152518738	152518738	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr2:152518738G>T	ENST00000427231.2	-	46	6083	c.5881C>A	c.(5881-5883)Cgc>Agc	p.R1961S	NEB_ENST00000603639.1_Missense_Mutation_p.R1961S|NEB_ENST00000409198.1_Missense_Mutation_p.R1961S|NEB_ENST00000604864.1_Missense_Mutation_p.R1961S|NEB_ENST00000172853.10_Missense_Mutation_p.R1961S|NEB_ENST00000397345.3_Missense_Mutation_p.R1961S	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	1961					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGGTGCTGGCGGTACTTCTTT	0.443000													31	46					2.85442e-18	3.68069e-18	0.045705	1	0
OR2A25	392138	broad.mit.edu	37	7	143771818	143771818	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr7:143771818G>T	ENST00000408898.2	+	1	544	c.506G>T	c.(505-507)gGa>gTa	p.G169V		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TCCTTCTGTGGACCCCAGAAA	0.448000													94	151					4.21487e-37	5.84014e-37	0.048971	1	0
TULP2	7288	broad.mit.edu	37	19	49387296	49387296	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr19:49387296C>A	ENST00000221399.3	-	10	1213	c.1069G>T	c.(1069-1071)Gtc>Ttc	p.V357F		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	357					visual perception	cytoplasm|extracellular region				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		GTGCTGAAGACATTGGATCTG	0.478000													28	42					4.7796e-09	5.5165e-09	0.099896	1	0
MS4A5	64232	broad.mit.edu	37	11	60215127	60215127	+	Silent	SNP	T	T	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr11:60215127T>A	ENST00000300190.2	+	5	584	c.498T>A	c.(496-498)atT>atA	p.I166I		NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	166						integral to membrane	receptor activity			large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						TACAGGGAATTTTGATTACAT	0.343000													16	81					0	0	0.028581	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558379	140558379	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr5:140558379A>G	ENST00000239444.2	+	1	1009	c.764A>G	c.(763-765)gAc>gGc	p.D255G		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		255	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATCTCTGAGGACAGTCCAATA	0.473000													39	398					0	0	0.080422	0	0
EXOC3L1	283849	broad.mit.edu	37	16	67220756	67220756	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr16:67220756A>T	ENST00000314586.6	-	7	1430	c.1190T>A	c.(1189-1191)cTg>cAg	p.L397Q		NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	397					exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						CTCCCCATCCAGTGCATTCTG	0.597000													50	44					0	0	0.048971	0	0
MYO7B	4648	broad.mit.edu	37	2	128380776	128380776	+	Splice_Site	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr2:128380776G>T	ENST00000389524.4	+	28	3620		c.e28-1		MYO7B_ENST00000409816.2_Splice_Site|MYO7B_ENST00000428314.1_Splice_Site|MYO7B_ENST00000409090.1_Splice_Site			Q6PIF6	MYO7B_HUMAN	myosin VIIB							apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TCTGTCCCCAGGCTGTCAAGT	0.592000													9	30					0.0581538	0.0593653	0.058154	1	0
MROH2B	133558	broad.mit.edu	37	5	41065491	41065491	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr5:41065491G>C	ENST00000399564.4	-	4	753	c.303C>G	c.(301-303)atC>atG	p.I101M		NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GTAGCTCTAAGATCCTGAAGT	0.433000													34	49					0	0	0.050027	0	0
AKAP13	11214	broad.mit.edu	37	15	86123274	86123274	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr15:86123274G>A	ENST00000394518.2	+	7	2070	c.1975G>A	c.(1975-1977)Gat>Aat	p.D659N	AKAP13_ENST00000361243.2_Missense_Mutation_p.D659N|RP11-815J21.2_ENST00000561409.1_RNA	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	659					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AACTGGAGACGATAAACTTTG	0.428000													29	122					0	0	0.045705	0	0
DGKG	1608	broad.mit.edu	37	3	185906032	185906032	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr3:185906032T>A	ENST00000265022.3	-	22	2593	c.2054A>T	c.(2053-2055)aAg>aTg	p.K685M	DGKG_ENST00000344484.4_Missense_Mutation_p.K660M|DGKG_ENST00000544847.1_Missense_Mutation_p.K626M|DGKG_ENST00000382164.4_Missense_Mutation_p.K646M	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	685					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	AGTGACACCCTTCCTGCTTTC	0.502000													9	253					0	0	0.058154	0	0
IFT74	80173	broad.mit.edu	37	9	27062638	27062638	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr9:27062638G>T	ENST00000443698.1	+	20	1878	c.1707G>T	c.(1705-1707)gaG>gaT	p.E569D	IFT74_ENST00000433700.1_Missense_Mutation_p.E569D|IFT74_ENST00000380062.5_Missense_Mutation_p.E569D	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74 homolog (Chlamydomonas)	569						cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		AGAGTCAAGAGAGTGATTACC	0.373000													24	48					4.47668e-21	5.91404e-21	0.091800	1	0
GPR128	84873	broad.mit.edu	37	3	100387877	100387877	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr3:100387877C>A	ENST00000273352.3	+	15	2332	c.2064C>A	c.(2062-2064)taC>taA	p.Y688*	GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Nonsense_Mutation_p.Y393*	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	688					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TTCTAGCATACCTGATGCTAG	0.383000													31	55					3.73148e-12	4.49948e-12	0.034045	1	0
ZNF239	8187	broad.mit.edu	37	10	44052824	44052824	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr10:44052824T>C	ENST00000306006.6	-	2	1356	c.704A>G	c.(703-705)tAc>tGc	p.Y235C	ZNF239_ENST00000374446.2_Missense_Mutation_p.Y235C|ZNF239_ENST00000426961.1_Missense_Mutation_p.Y235C|ZNF239_ENST00000535642.1_Missense_Mutation_p.Y235C	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CTCACATTTGTAGGGTTTTTC	0.448000													54	99					0	0	0.048971	0	0
RPP38	10557	broad.mit.edu	37	10	15145923	15145923	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr10:15145923A>T	ENST00000378197.4	+	3	1124	c.610A>T	c.(610-612)Agt>Tgt	p.S204C	NMT2_ENST00000466201.1_Intron|RPP38_ENST00000378202.5_Missense_Mutation_p.S204C|RPP38_ENST00000451677.1_Intron	NM_183005.4	NP_892117.1	P78345	RPP38_HUMAN	ribonuclease P/MRP 38kDa subunit	204					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)	8						CCCCAGTTTAAGTGTACCATG	0.438000													4	68					0	0	0.009096	0	0
HNRNPL	3191	broad.mit.edu	37	19	39328054	39328054	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr19:39328054A>T	ENST00000221419.5	-	12	2047	c.1681T>A	c.(1681-1683)Ttc>Atc	p.F561I	HNRNPL_ENST00000600873.1_Missense_Mutation_p.F428I|AC104534.3_ENST00000594769.1_Silent_p.A177A	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	561					nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			TGGTTCAGGAAGCCCAGAGTC	0.522000													29	56					0	0	0.041601	0	0
ATP2C2	9914	broad.mit.edu	37	16	84402263	84402263	+	Silent	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr16:84402263C>G	ENST00000416219.2	+	1	131	c.42C>G	c.(40-42)ggC>ggG	p.G14G	ATP2C2_ENST00000262429.4_Silent_p.G14G			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	14					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						AGAAACTCGGCTTCTCGGGCG	0.711000													4	3					0	0	0.009096	0	0
SPEF2	79925	broad.mit.edu	37	5	35776363	35776363	+	Silent	SNP	A	A	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr5:35776363A>T	ENST00000440995.2	+	29	4068	c.4068A>T	c.(4066-4068)atA>atT	p.I1356I	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Silent_p.I1361I			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1361					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)			AAATAGAAATAGCCACGCAAT	0.328000													45	77					0	0	0.042209	0	0
CUL9	23113	broad.mit.edu	37	6	43167690	43167690	+	Silent	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr6:43167690C>T	ENST00000252050.4	+	14	3264	c.3180C>T	c.(3178-3180)ttC>ttT	p.F1060F	CUL9_ENST00000372647.2_Silent_p.F1060F|CUL9_ENST00000354495.3_Silent_p.F950F	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1060					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TGACCTGCTTCCTACATCGCC	0.502000													39	41					0	0	0.086207	0	0
LOC101929006	101929006	broad.mit.edu	37	6	29231743	29231743	+	RNA	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr6:29231743C>G	ENST00000441381.1	+	0	214																		p.M38I(1)									CCATATTTCCCATCAAAGAAA	0.418000													5	153					0	0	0.021553	0	0
ADAM29	11086	broad.mit.edu	37	4	175898232	175898232	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr4:175898232C>A	ENST00000359240.3	+	5	2226	c.1556C>A	c.(1555-1557)aCt>aAt	p.T519N	ADAM29_ENST00000445694.1_Missense_Mutation_p.T519N|ADAM29_ENST00000514159.1_Missense_Mutation_p.T519N|ADAM29_ENST00000404450.4_Missense_Mutation_p.T519N	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	519	Cys-rich.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GCAAGTGAGACTTGCTACAAA	0.438000													9	76					3.09899e-07	3.45829e-07	0.047766	1	0
MLEC	9761	broad.mit.edu	37	12	121131987	121131987	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr12:121131987G>T	ENST00000228506.3	+	2	757	c.329G>T	c.(328-330)gGc>gTc	p.G110V	MLEC_ENST00000412616.2_Missense_Mutation_p.G110V	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	110					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						GAGACCTTTGGCTACGAAGTG	0.517000													38	46					1.67305e-13	2.06829e-13	0.086207	1	0
GATA1	2623	broad.mit.edu	37	X	48650830	48650830	+	Silent	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chrX:48650830G>A	ENST00000376670.3	+	4	810	c.699G>A	c.(697-699)aaG>aaA	p.K233K	GATA1_ENST00000376665.3_Silent_p.K233K	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	233					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						TCTATCACAAGATGAATGGGC	0.592000			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome								4	30					0	0	0.014758	0	0
OR5AK2	390181	broad.mit.edu	37	11	56757206	56757206	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr11:56757206T>A	ENST00000326855.2	+	1	860	c.818T>A	c.(817-819)gTg>gAg	p.V273E		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						AATATGAAAGTGGCCTTTATA	0.358000													13	68					0	0	0.093190	0	0
MYO1A	4640	broad.mit.edu	37	12	57440397	57440397	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr12:57440397T>A	ENST00000442789.2	-	9	866	c.579A>T	c.(577-579)aaA>aaT	p.K193N	MYO1A_ENST00000544473.1_Missense_Mutation_p.K31N|MYO1A_ENST00000300119.3_Missense_Mutation_p.K193N	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	193	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TCCTTTCTCCTTTGAGCTGCT	0.493000													48	70					0	0	0.048971	0	0
ATP6V1B1	525	broad.mit.edu	37	2	71185490	71185490	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr2:71185490G>T	ENST00000234396.4	+	4	374	c.301G>T	c.(301-303)Gcc>Tcc	p.A101S	AC007040.11_ENST00000606025.1_Intron|ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.A101S	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	101					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						AGGGATCGATGCCAGGAAGAC	0.582000													26	40					3.6726e-16	4.63591e-16	0.091800	1	0
C2CD3	26005	broad.mit.edu	37	11	73765701	73765701	+	Silent	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr11:73765701C>A	ENST00000334126.7	-	26	5332	c.5106G>T	c.(5104-5106)ctG>ctT	p.L1702L	C2CD3_ENST00000313663.7_Silent_p.L1702L			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1702	C2 2.					centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GGTCCAGAAGCAGCTCTTTTG	0.333000													40	123					6.99958e-10	8.18389e-10	0.092188	1	0
CHD9	80205	broad.mit.edu	37	16	53357965	53357965	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr16:53357965C>G	ENST00000566029.1	+	39	8013	c.7804C>G	c.(7804-7806)Ctc>Gtc	p.L2602V	CHD9_ENST00000398510.3_Missense_Mutation_p.L2618V|CHD9_ENST00000447540.1_Missense_Mutation_p.L2603V|CHD9_ENST00000564845.1_Missense_Mutation_p.L2602V			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2618					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TGAACGTATTCTCACTGGTCC	0.428000													4	79					0	0	0.009096	0	0
ARL13B	200894	broad.mit.edu	37	3	93754267	93754267	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr3:93754267G>T	ENST00000535334.1	+	3	687	c.164G>T	c.(163-165)tGc>tTc	p.C55F	ARL13B_ENST00000471138.1_Missense_Mutation_p.C158F|ARL13B_ENST00000303097.7_Missense_Mutation_p.C51F|ARL13B_ENST00000486562.1_3'UTR|ARL13B_ENST00000539730.1_5'UTR|ARL13B_ENST00000394222.3_Missense_Mutation_p.C158F	NM_001174151.1	NP_001167622.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	158							GTP binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						GAGCACAAGTGCCTGTGTCAG	0.308000													38	66					4.14481e-20	5.42246e-20	0.086207	1	0
CHAF1A	10036	broad.mit.edu	37	19	4408903	4408903	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr19:4408903G>T	ENST00000301280.5	+	3	208	c.107G>T	c.(106-108)cGt>cTt	p.R36L		NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	36	Binds to CBX1 chromo shadow domain.|Binds to PCNA.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GTTTCAGCCCGTCTGCCGTTT	0.463000								Chromatin Structure					78	38					4.01556e-35	5.53552e-35	0.048971	1	0
CD109	135228	broad.mit.edu	37	6	74519732	74519732	+	Silent	SNP	A	A	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr6:74519732A>T	ENST00000437994.2	+	27	3812	c.3381A>T	c.(3379-3381)tcA>tcT	p.S1127S	CD109_ENST00000287097.5_Silent_p.S1127S|CD109_ENST00000422508.2_Silent_p.S1050S	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	1127						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGGTGTCATCAGAGTCCAAAC	0.403000													14	30					0	0	0.033300	0	0
CEP57L1	285753	broad.mit.edu	37	6	109471323	109471323	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr6:109471323A>G	ENST00000407272.1	+	6	920	c.343A>G	c.(343-345)Ata>Gta	p.I115V	CEP57L1_ENST00000520883.1_Intron|CEP57L1_ENST00000523787.1_Missense_Mutation_p.I118V|CEP57L1_ENST00000368968.2_Missense_Mutation_p.I115V|CEP57L1_ENST00000521277.1_Intron|CEP57L1_ENST00000517392.1_Missense_Mutation_p.I115V|CEP57L1_ENST00000519095.1_Missense_Mutation_p.I115V|CEP57L1_ENST00000336977.4_Intron|CEP57L1_ENST00000521522.1_Missense_Mutation_p.I115V|CEP57L1_ENST00000359793.3_Missense_Mutation_p.I115V|CEP57L1_ENST00000368970.2_Missense_Mutation_p.I115V	NM_001083535.1	NP_001077004.1	Q8IYX8	CE57L_HUMAN	centrosomal protein 57kDa-like 1	115						microtubule|microtubule organizing center				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						tttcATAGATATAAGTATACA	0.368000													20	40					0	0	0.049695	0	0
CDC16	8881	broad.mit.edu	37	13	115037765	115037765	+	Silent	SNP	A	A	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr13:115037765A>G	ENST00000360383.3	+	18	1908	c.1710A>G	c.(1708-1710)gtA>gtG	p.V570V	CDC16_ENST00000252458.6_Silent_p.V425V|CDC16_ENST00000252457.5_Silent_p.V569V|CDC16_ENST00000356221.3_Silent_p.V570V|CDC16_ENST00000461716.1_3'UTR|CDC16_ENST00000375310.1_Silent_p.V476V|CDC16_ENST00000375312.3_Silent_p.V425V|CDC16_ENST00000375308.1_Silent_p.V476V	NM_001078645.1|NM_003903.3	NP_001072113.1|NP_003894.3	Q13042	CDC16_HUMAN	cell division cycle 16	570					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding			endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			AATTTGAAGTAGAAAAACAGA	0.368000													4	72					0	0	0.014758	0	0
OR2M3	127062	broad.mit.edu	37	1	248366781	248366781	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:248366781C>T	ENST00000456743.1	+	1	450	c.412C>T	c.(412-414)Cct>Tct	p.P138S		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-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)			TCTCATGAGCCCTAAAATTTG	0.453000													129	351					0	0	0.048971	0	0
FRMPD1	22844	broad.mit.edu	37	9	37732366	37732366	+	Silent	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr9:37732366C>A	ENST00000539465.1	+	10	1517	c.924C>A	c.(922-924)ctC>ctA	p.L308L	FRMPD1_ENST00000377765.3_Silent_p.L308L|FRMPD1_ENST00000536622.1_Silent_p.L130L|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000541302.1_Silent_p.L177L			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	308	FERM.					cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CACTCCGACTCGCGGCTCTGC	0.502000													29	24					4.2108e-06	4.59437e-06	0.041601	1	0
OR5H15	403274	broad.mit.edu	37	3	97888076	97888076	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr3:97888076A>T	ENST00000356526.2	+	1	533	c.533A>T	c.(532-534)tAc>tTc	p.Y178F		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						CATCACATTTACTGTGACACT	0.308000													15	38					0	0	0.069288	0	0
LAMA4	3910	broad.mit.edu	37	6	112496574	112496574	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr6:112496574C>G	ENST00000230538.7	-	11	1695	c.1298G>C	c.(1297-1299)cGt>cCt	p.R433P	LAMA4_ENST00000424408.2_Missense_Mutation_p.R426P|LAMA4_ENST00000389463.4_Missense_Mutation_p.R426P|LAMA4_ENST00000522006.1_Missense_Mutation_p.R426P	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	433	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	p.R426H(1)|p.R426L(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AAATGGTTGACGGCTTCTAAT	0.488000													42	113					0	0	0.111260	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882629	228882629	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr2:228882629T>C	ENST00000392056.3	-	7	2987	c.2941A>G	c.(2941-2943)Agg>Ggg	p.R981G	SPHKAP_ENST00000344657.5_Missense_Mutation_p.R981G	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	981						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCTTTCTTCCTCTTCAAGGAT	0.537000													9	103					0	0	0.047766	0	0
ITIH6	347365	broad.mit.edu	37	X	54784369	54784369	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chrX:54784369G>T	ENST00000218436.6	-	8	2167	c.2138C>A	c.(2137-2139)tCt>tAt	p.S713Y		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	713					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										CAAGGTGCCAGAATCCTGTTG	0.512000													62	24					1.55088e-19	2.01428e-19	0.048971	1	0
RTN2	6253	broad.mit.edu	37	19	45998025	45998025	+	Silent	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr19:45998025G>T	ENST00000245923.4	-	3	553	c.318C>A	c.(316-318)ggC>ggA	p.G106G	RTN2_ENST00000589384.1_5'UTR|RTN2_ENST00000590526.1_5'UTR|PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000344680.4_Silent_p.G106G	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	106						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		CCAAGCTGTCGCCCAGGCTGG	0.711000													28	56					3.73808e-20	4.90225e-20	0.108266	1	0
SELO	83642	broad.mit.edu	37	22	50655559	50655559	+	Splice_Site	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr22:50655559C>T	ENST00000380903.2	+	8	1903		c.e8+2		RP3-402G11.5_ENST00000492092.1_Splice_Site	NM_031454.1	NP_113642.1																					TTCTCAGAGGCAAGCACACGC	0.647000													8	57					0	0	0.038147	0	0
ASXL1	171023	broad.mit.edu	37	20	31022464	31022464	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr20:31022464G>A	ENST00000375687.4	+	13	2373	c.1949G>A	c.(1948-1950)gGt>gAt	p.G650D	ASXL1_ENST00000306058.5_Missense_Mutation_p.G645D	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	650	Gly-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.T639_G659>PPWD(1)|p.A640_S664>PCSGG(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CCGGGTGGAGGTGGCGGCGGG	0.701000			"""F, N, Mis"""		"""MDS, CMML"""								8	10					0	0	0.047766	0	0
MATN4	8785	broad.mit.edu	37	20	43933051	43933051	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr20:43933051C>A	ENST00000537548.1	-	4	704	c.460G>T	c.(460-462)Gtg>Ttg	p.V154L	MATN4_ENST00000353917.5_Missense_Mutation_p.V154L|MATN4_ENST00000372753.1_Intron|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000372756.1_Missense_Mutation_p.V154L|MATN4_ENST00000372754.1_Missense_Mutation_p.V154L|MATN4_ENST00000342716.4_Missense_Mutation_p.V154L|MATN4_ENST00000360607.5_Missense_Mutation_p.V154L			O95460	MATN4_HUMAN	matrilin 4	154	VWFA 1.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				ACCTCGGCCACGCGGTCCTGG	0.731000													10	9					2.17888e-05	2.33947e-05	0.058154	1	0
FNDC9	408263	broad.mit.edu	37	5	156769922	156769922	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr5:156769922A>G	ENST00000312349.4	-	2	810	c.623T>C	c.(622-624)tTa>tCa	p.L208S	CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000435847.2_Intron	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9	208						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						CCCCCTCTGTAAGGCACCCGC	0.602000											OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	18					0	0	0.091800	0	0
GPR124	25960	broad.mit.edu	37	8	37672447	37672447	+	Silent	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr8:37672447C>T	ENST00000315215.7	+	2	663	c.300C>T	c.(298-300)cgC>cgT	p.R100R	GPR124_ENST00000412232.2_Silent_p.R100R			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	100					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CGGGGCTCCGCAATGGCTCCT	0.582000													109	102					0	0	0.048971	0	0
AGMO	392636	broad.mit.edu	37	7	15427033	15427033	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr7:15427033C>T	ENST00000342526.3	-	9	1124	c.955G>A	c.(955-957)Gag>Aag	p.E319K		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	319					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						CTATTTACCTCTGGAATTTCT	0.433000													40	116					0	0	0.111260	0	0
HSPD1	3329	broad.mit.edu	37	2	198352698	198352698	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr2:198352698C>T	ENST00000388968.3	-	11	1720	c.1453G>A	c.(1453-1455)Gtt>Att	p.V485I	HSPD1_ENST00000345042.2_Missense_Mutation_p.V485I	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	485					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			GATCCTTCAACACCTGCATTC	0.323000													4	21					0	0	0.009096	0	0
GRIK2	2898	broad.mit.edu	37	6	102483225	102483225	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr6:102483225A>C	ENST00000369138.1	+	14	2585	c.2095A>C	c.(2095-2097)Atc>Ctc	p.I699L	GRIK2_ENST00000413795.1_Missense_Mutation_p.I699L|GRIK2_ENST00000369134.4_Missense_Mutation_p.I650L|GRIK2_ENST00000421544.1_Missense_Mutation_p.I699L|GRIK2_ENST00000369137.3_Missense_Mutation_p.I623L|GRIK2_ENST00000318991.6_Missense_Mutation_p.I699L	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	699					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GAAATCAAAAATCTCCACGTA	0.378000													34	50					0	0	0.054565	0	0
CALCR	799	broad.mit.edu	37	7	93055685	93055685	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr7:93055685G>T	ENST00000359558.2	-	16	1809	c.1510C>A	c.(1510-1512)Caa>Aaa	p.Q504K	CALCR_ENST00000421592.1_Missense_Mutation_p.Q486K|CALCR_ENST00000426151.1_Missense_Mutation_p.Q470K|CALCR_ENST00000360249.4_Missense_Mutation_p.Q486K|CALCR_ENST00000394441.1_Missense_Mutation_p.Q470K	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	486					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	GATGACTCTTGCTCTATGATA	0.458000													56	106					2.47907e-22	3.28309e-22	0.048971	1	0
HSP90B1	7184	broad.mit.edu	37	12	104336952	104336952	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr12:104336952A>G	ENST00000299767.5	+	13	1927	c.1745A>G	c.(1744-1746)gAa>gGa	p.E582G		NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	582					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	GCCCTTCCCGAATTTGATGGG	0.423000													12	112					0	0	0.080935	0	0
EPC2	26122	broad.mit.edu	37	2	149526787	149526787	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr2:149526787G>T	ENST00000258484.6	+	8	1242	c.1208G>T	c.(1207-1209)cGg>cTg	p.R403L		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	403					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		TTCAGAAGGCGGGCAGGATGC	0.423000													11	7					2.27111e-07	2.53969e-07	0.093190	1	0
ZNF658	26149	broad.mit.edu	37	9	40772406	40772406	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr9:40772406G>C	ENST00000602553.1	-	5	3163	c.2869C>G	c.(2869-2871)Caa>Gaa	p.Q957E	ZNF658_ENST00000377626.3_Missense_Mutation_p.Q957E|ZNF658_ENST00000441795.1_Intron			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	957					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TGAATTCTTTGATGTACTCTG	0.428000													4	153					0	0	0.021553	0	0
UNC13C	440279	broad.mit.edu	37	15	54307573	54307573	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr15:54307573A>C	ENST00000545554.1	+	1	2473	c.2473A>C	c.(2473-2475)Agt>Cgt	p.S825R	UNC13C_ENST00000260323.11_Missense_Mutation_p.S825R|UNC13C_ENST00000537900.1_Missense_Mutation_p.S825R			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	825					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GTATGAGGACAGTGGCTCTTC	0.438000													10	23					0	0	0.069234	0	0
MAGI1	9223	broad.mit.edu	37	3	65367574	65367574	+	Silent	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr3:65367574C>T	ENST00000330909.8	-	17	2762	c.2763G>A	c.(2761-2763)gtG>gtA	p.V921V	MAGI1_ENST00000402939.2_Silent_p.V893V|MAGI1_ENST00000497477.2_Silent_p.V893V|MAGI1_ENST00000483466.1_Silent_p.V921V	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	921					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CTTTACGCCGCACCGTGAGAT	0.483000													23	26					0	0	0.062417	0	0
KMT2D	8085	broad.mit.edu	37	12	49442514	49442514	+	Silent	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr12:49442514C>T	ENST00000301067.7	-	13	4058	c.4059G>A	c.(4057-4059)gaG>gaA	p.E1353E		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CATCTTCTTCCTCCTCCTCCT	0.483000													32	240					0	0	0.041601	0	0
VPS41	27072	broad.mit.edu	37	7	38785205	38785205	+	Silent	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr7:38785205C>T	ENST00000310301.4	-	23	1989	c.1935G>A	c.(1933-1935)gaG>gaA	p.E645E	VPS41_ENST00000395969.2_Silent_p.E620E	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	645					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						GTTGACAGATCTCAAGAGCCT	0.328000													64	94					0	0	0.048971	0	0
AIDA	64853	broad.mit.edu	37	1	222846694	222846694	+	Missense_Mutation	SNP	C	C	G	rs138435242		TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:222846694C>G	ENST00000340020.6	-	8	873	c.667G>C	c.(667-669)Gac>Cac	p.D223H	AIDA_ENST00000355727.2_Intron|AIDA_ENST00000474863.1_5'UTR|AIDA_ENST00000541237.1_Missense_Mutation_p.D199H	NM_022831.2	NP_073742.2	Q96BJ3	AIDA_HUMAN	axin interactor, dorsalization associated	223					dorsal/ventral pattern formation|negative regulation of JNK cascade|negative regulation of JUN kinase activity|regulation of protein homodimerization activity					kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						AGCTCAATGTCCACATTAAAA	0.338000													5	42					0	0	0.014758	0	0
FSIP2	401024	broad.mit.edu	37	2	186692902	186692902	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr2:186692902G>T	ENST00000343098.5	+	21	20760	c.20760G>T	c.(20758-20760)aaG>aaT	p.K6920N	FSIP2_ENST00000424728.1_Missense_Mutation_p.K6831N	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AGGAACAAAAGCCAGAGCATG	0.313000													8	63					1.26484e-09	1.46929e-09	0.038147	1	0
OR10G8	219869	broad.mit.edu	37	11	123900413	123900413	+	Silent	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr11:123900413C>T	ENST00000431524.1	+	1	117	c.84C>T	c.(82-84)gtC>gtT	p.V28V		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		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;0.0521)		TCTTTGGAGTCTTCCTGGTGG	0.572000													81	158					0	0	0.048971	0	0
PARP1	142	broad.mit.edu	37	1	226553750	226553750	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:226553750C>A	ENST00000366794.5	-	18	2553	c.2410G>T	c.(2410-2412)Gtt>Ttt	p.V804F	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	804	PARP catalytic.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TCTCTGTCAACCACCTGGATA	0.453000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					13	38					2.68362e-12	3.24321e-12	0.093190	1	0
AIM1	202	broad.mit.edu	37	6	106992709	106992709	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr6:106992709G>T	ENST00000369066.3	+	11	4476	c.3989G>T	c.(3988-3990)gGa>gTa	p.G1330V	AIM1_ENST00000487681.1_3'UTR|AIM1_ENST00000535438.1_Missense_Mutation_p.G149V	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													41	47					7.53189e-24	1.00737e-23	0.098360	1	0
APBA2	321	broad.mit.edu	37	15	29346360	29346360	+	Silent	SNP	T	T	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr15:29346360T>A	ENST00000558402.1	+	5	872	c.273T>A	c.(271-273)ccT>ccA	p.P91P	APBA2_ENST00000561069.1_Silent_p.P91P|APBA2_ENST00000558330.1_Silent_p.P91P|APBA2_ENST00000558259.1_Silent_p.P91P|APBA2_ENST00000411764.1_Silent_p.P91P			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	91					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		AGGGCCTCCCTGAGGAGGAGG	0.602000													66	64					0	0	0.048971	0	0
KPRP	448834	broad.mit.edu	37	1	152733152	152733152	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:152733152G>A	ENST00000368773.1	+	2	1146	c.1088G>A	c.(1087-1089)tGg>tAg	p.W363*	KPRP_ENST00000606109.1_Nonsense_Mutation_p.W363*	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	363	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGCCCTCCTGGGGCGCCTCC	0.657000													38	68					0	0	0.098360	0	0
LIPT1	51601	broad.mit.edu	37	2	99778833	99778833	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr2:99778833A>G	ENST00000393477.3	+	4	765	c.413A>G	c.(412-414)aAt>aGt	p.N138S	MRPL30_ENST00000410042.1_Intron|LIPT1_ENST00000393471.2_Missense_Mutation_p.N138S|LIPT1_ENST00000393473.2_Missense_Mutation_p.N138S|LIPT1_ENST00000393474.3_Missense_Mutation_p.N138S|LIPT1_ENST00000340066.1_Missense_Mutation_p.N138S	NM_145197.2	NP_660198.1	Q9Y234	LIPT_HUMAN	lipoyltransferase 1	138					lipid metabolic process|protein lipoylation	mitochondrion	acyltransferase activity			large_intestine(6)|lung(1)	7					Lipoic Acid(DB00166)	AGAGCTCTGAATGCTGTCCAA	0.383000													40	63					0	0	0.080422	0	0
OR10G8	219869	broad.mit.edu	37	11	123900428	123900428	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr11:123900428C>A	ENST00000431524.1	+	1	132	c.99C>A	c.(97-99)taC>taA	p.Y33*		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		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;0.0521)		TGGTGGTTTACGTGCTCACTG	0.572000													70	168					2.26907e-38	3.15213e-38	0.048971	1	0
SLFN12L	100506736	broad.mit.edu	37	17	33802328	33802328	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr17:33802328A>C	ENST00000260908.7	-	4	1498	c.1381T>G	c.(1381-1383)Tgt>Ggt	p.C461G	SLFN12L_ENST00000449046.1_Missense_Mutation_p.C492G|SLFN12L_ENST00000361112.4_Missense_Mutation_p.C490G	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	493						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						AGAGCATCACAGAGGACTTTG	0.453000													23	48					0	0	0.062417	0	0
TAF3	83860	broad.mit.edu	37	10	8007078	8007078	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr10:8007078G>C	ENST00000344293.5	+	3	1811	c.1605G>C	c.(1603-1605)aaG>aaC	p.K535N		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	535	Lys-rich.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						AAATgaaaaagaaagaaaagc	0.403000													7	38					0	0	0.029380	0	0
MYH8	4626	broad.mit.edu	37	17	10309661	10309661	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr17:10309661T>C	ENST00000403437.2	-	20	2319	c.2225A>G	c.(2224-2226)aAg>aGg	p.K742R	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	742	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AGAAGCCTTCTTGCTGTCAAT	0.348000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				31	25					0	0	0.037714	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14851635	14851635	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr18:14851635A>C	ENST00000358984.4	+	36	3515	c.3335A>C	c.(3334-3336)tAc>tCc	p.Y1112S		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1197										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GAAAATAAATACTTTGAGGAC	0.343000													18	26					0	0	0.069288	0	0
TRDN	10345	broad.mit.edu	37	6	123957920	123957920	+	Translation_Start_Site	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr6:123957920T>C	ENST00000334268.4	-	1	318	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	TRDN_ENST00000546248.1_Start_Codon_SNP_p.M1V|TRDN_ENST00000542443.1_Start_Codon_SNP_p.M1V|TRDN_ENST00000398178.3_Start_Codon_SNP_p.M1V			Q13061	TRDN_HUMAN	triadin	1					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)		ATCTCAGTCATGGTGGTCGTC	0.413000													36	34					0	0	0.069456	0	0
PDZD3	79849	broad.mit.edu	37	11	119060200	119060200	+	Nonstop_Mutation	SNP	A	A	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr11:119060200A>G	ENST00000531114.1	+	9	2264	c.1715A>G	c.(1714-1716)tAg>tGg	p.*572W	PDZD3_ENST00000355547.5_Nonstop_Mutation_p.*506W|PDZD3_ENST00000392817.2_Nonstop_Mutation_p.*572W|PDZD3_ENST00000525131.1_Nonstop_Mutation_p.*493W|PDZD3_ENST00000322712.4_Nonstop_Mutation_p.*492W			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	0					cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		GATCTACTGTAGAGCACCCCT	0.557000													55	90					0	0	0.048971	0	0
VPS13C	54832	broad.mit.edu	37	15	62209817	62209817	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr15:62209817T>A	ENST00000261517.5	-	60	7851	c.7778A>T	c.(7777-7779)cAg>cTg	p.Q2593L	VPS13C_ENST00000249837.3_Missense_Mutation_p.Q2550L|VPS13C_ENST00000395898.3_Missense_Mutation_p.Q2550L|VPS13C_ENST00000395896.4_Missense_Mutation_p.Q2593L	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2593					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCCAGCTGGCTGGATAAACAA	0.383000													25	14					0	0	0.091800	0	0
HELZ	9931	broad.mit.edu	37	17	65103364	65103364	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr17:65103364T>G	ENST00000358691.5	-	31	5328	c.5162A>C	c.(5161-5163)cAa>cCa	p.Q1721P	HELZ_ENST00000580168.1_Missense_Mutation_p.Q1722P	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AATAGCATGTTGATGATTCTG	0.448000													95	143					0	0	0.048971	0	0
VRK3	51231	broad.mit.edu	37	19	50510959	50510959	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr19:50510959C>G	ENST00000599538.1	-	5	1078	c.414G>C	c.(412-414)caG>caC	p.Q138H	VRK3_ENST00000601912.1_Missense_Mutation_p.Q88H|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000593919.1_Missense_Mutation_p.Q138H|VRK3_ENST00000594948.1_Missense_Mutation_p.Q138H|VRK3_ENST00000377011.2_Missense_Mutation_p.Q88H|VRK3_ENST00000594092.1_Missense_Mutation_p.Q138H|VRK3_ENST00000316763.3_Missense_Mutation_p.Q138H|VRK3_ENST00000601341.1_Missense_Mutation_p.Q88H|VRK3_ENST00000443401.2_5'UTR			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	138						nucleus	ATP binding|protein kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		GCTTCAGCGTCTGAGGGCTCT	0.592000													5	167					0	0	0.014758	0	0
EVX1	2128	broad.mit.edu	37	7	27282823	27282823	+	Silent	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr7:27282823G>A	ENST00000496902.4	+	1	660	c.174G>A	c.(172-174)cgG>cgA	p.R58R	EVX1-AS_ENST00000519218.1_RNA|EVX1_ENST00000222761.3_Silent_p.R58R|EVX1-AS_ENST00000517726.1_RNA			P49640	EVX1_HUMAN	even-skipped homeobox 1	58						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						CGGCCACCCGGGAGCGCGGCG	0.756000													3	4					0	0	0.004672	0	0
EHBP1	23301	broad.mit.edu	37	2	63175836	63175836	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr2:63175836C>T	ENST00000263991.5	+	14	2442	c.1960C>T	c.(1960-1962)Cag>Tag	p.Q654*	EHBP1_ENST00000405289.1_Nonsense_Mutation_p.Q619*|EHBP1_ENST00000354487.3_Nonsense_Mutation_p.Q619*|EHBP1_ENST00000405015.3_Nonsense_Mutation_p.Q619*|EHBP1_ENST00000431489.1_Nonsense_Mutation_p.Q619*	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	654						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			CACAGAACCCCAGAAGTCTCA	0.473000													4	59					0	0	0.009096	0	0
MUC17	140453	broad.mit.edu	37	7	100678437	100678437	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr7:100678437G>C	ENST00000306151.4	+	3	3804	c.3740G>C	c.(3739-3741)aGc>aCc	p.S1247T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1247	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTTGACACCAGCACACCTGTG	0.502000													18	851					0	0	0.038395	0	0
ZNF708	7562	broad.mit.edu	37	19	21476571	21476571	+	Silent	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr19:21476571T>C	ENST00000356929.3	-	4	1394	c.1197A>G	c.(1195-1197)aaA>aaG	p.K399K		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						TGGTAAAGGCTTTACCACATT	0.368000													13	62					0	0	0.020292	0	0
UNC5A	90249	broad.mit.edu	37	5	176306761	176306761	+	Silent	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr5:176306761C>A	ENST00000329542.4	+	15	2677	c.2403C>A	c.(2401-2403)gcC>gcA	p.A801A	UNC5A_ENST00000261961.3_Silent_p.A761A	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	801	Death.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCCCACAGCCATGATCCTCA	0.687000													33	19					3.11337e-16	3.93922e-16	0.054565	1	0
ULBP1	80329	broad.mit.edu	37	6	150289860	150289860	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr6:150289860A>G	ENST00000229708.2	+	2	246	c.203A>G	c.(202-204)aAc>aGc	p.N68S	ULBP1_ENST00000367345.1_Missense_Mutation_p.N68S	NM_025218.2	NP_079494.1	Q9BZM6	N2DL1_HUMAN	UL16 binding protein 1	68	MHC class I alpha-1 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|endoplasmic reticulum|MHC class I protein complex	MHC class I receptor activity			large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		GACTGTGTTAACCACAAGGCC	0.448000													26	173					0	0	0.030593	0	0
NEB	4703	broad.mit.edu	37	2	152426863	152426863	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr2:152426863A>T	ENST00000427231.2	-	109	17364	c.17162T>A	c.(17161-17163)gTg>gAg	p.V5721E	NEB_ENST00000603639.1_Missense_Mutation_p.V5721E|NEB_ENST00000409198.1_Missense_Mutation_p.V4020E|NEB_ENST00000604864.1_Missense_Mutation_p.V5721E|NEB_ENST00000172853.10_Missense_Mutation_p.V4020E|NEB_ENST00000397345.3_Missense_Mutation_p.V5721E	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	5737					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GAGGGTGCCCACGTAGTGTCC	0.512000													10	21					0	0	0.080935	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17167258	17167258	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr11:17167258A>G	ENST00000265970.7	-	7	1660	c.1661T>C	c.(1660-1662)tTa>tCa	p.L554S	PIK3C2A_ENST00000531428.1_5'UTR|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.L174S	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	554					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	ATAAGAATCTAAGAGTTCTTC	0.343000													6	89					0	0	0.029380	0	0
ALG6	29929	broad.mit.edu	37	1	63894423	63894423	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:63894423A>G	ENST00000371108.4	+	13	1383	c.1078A>G	c.(1078-1080)Agt>Ggt	p.S360G	ALG6_ENST00000263440.4_Missense_Mutation_p.S362G|ALG6_ENST00000494765.1_3'UTR	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	360					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CTTAGTTTTAAGTGAAATTCC	0.229000													6	46					0	0	0.038147	0	0
TDRD6	221400	broad.mit.edu	37	6	46658843	46658843	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr6:46658843C>G	ENST00000544460.1	+	1	3232	c.2978C>G	c.(2977-2979)aCg>aGg	p.T993R	TDRD6_ENST00000316081.6_Missense_Mutation_p.T993R	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	993					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTTTATATAACGCATATTGAT	0.333000													19	30					0	0	0.043863	0	0
DLGAP2	9228	broad.mit.edu	37	8	1497595	1497595	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr8:1497595T>A	ENST00000421627.2	+	2	870	c.736T>A	c.(736-738)Tgc>Agc	p.C246S		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	325					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CGTGGCCCACTGCTACCCCGA	0.662000													6	93					0	0	0.029380	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140742083	140742083	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr5:140742083G>T	ENST00000522605.1	+	1	2381	c.2381G>T	c.(2380-2382)gGa>gTa	p.G794V	PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAAATCATGGAGCCGCTGGG	0.418000													42	26					1.59932e-28	2.18237e-28	0.098360	1	0
LYST	1130	broad.mit.edu	37	1	235944170	235944170	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:235944170A>T	ENST00000389794.3	-	16	5383	c.5209T>A	c.(5209-5211)Tta>Ata	p.L1737I	LYST_ENST00000389793.2_Missense_Mutation_p.L1737I|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1737					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTTACAATTAAGAGACCAATA	0.229000													10	15					0	0	0.058154	0	0
SPEN	23013	broad.mit.edu	37	1	16261619	16261619	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:16261619G>A	ENST00000375759.3	+	11	9088	c.8884G>A	c.(8884-8886)Gac>Aac	p.D2962N		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2962					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GAAGCTTGCTGACCCCGTCAC	0.592000													21	19					0	0	0.055883	0	0
SLC7A14	57709	broad.mit.edu	37	3	170198079	170198079	+	Splice_Site	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr3:170198079C>A	ENST00000231706.4	-	7	2307	c.1993_splice	c.e7+1	p.V664_splice	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	664						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)			GTTGCTTACCCACAAAGCACC	0.498000													45	195					6.21074e-16	7.82147e-16	0.042209	1	0
DNMBP	23268	broad.mit.edu	37	10	101716378	101716378	+	Silent	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr10:101716378G>A	ENST00000342239.3	-	4	944	c.853C>T	c.(853-855)Ctg>Ttg	p.L285L	DNMBP_ENST00000324109.4_Silent_p.L285L|DNMBP-AS1_ENST00000434409.1_RNA			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	285	SH3 4.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CTGCCCTTCAGGGATCCTTCC	0.542000													4	43					0	0	0.009096	0	0
ERCC6L	54821	broad.mit.edu	37	X	71425455	71425455	+	Silent	SNP	T	T	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chrX:71425455T>G	ENST00000373657.1	-	3	3395	c.2793A>C	c.(2791-2793)tcA>tcC	p.S931S	ERCC6L_ENST00000334463.3_Silent_p.S1054S|PIN4_ENST00000423432.2_Intron			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	1054					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					GTTTCACAGATGAGAATTGAA	0.358000													50	19					0	0	0.048971	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50186368	50186368	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr12:50186368G>A	ENST00000335999.6	-	12	3854	c.3653C>T	c.(3652-3654)cCc>cTc	p.P1218L		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	1214	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GTCTTCACAGGGATCTGTCCA	0.632000													8	62					0	0	0.038147	0	0
ANO6	196527	broad.mit.edu	37	12	45796949	45796949	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr12:45796949A>G	ENST00000320560.8	+	14	1909	c.1707A>G	c.(1705-1707)atA>atG	p.I569M	ANO6_ENST00000435642.1_Missense_Mutation_p.I569M|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000423947.3_Missense_Mutation_p.I590M|ANO6_ENST00000425752.2_Missense_Mutation_p.I569M|ANO6_ENST00000441606.2_Missense_Mutation_p.I551M	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	569					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GCTTCTACATAGCATTCTTTA	0.378000													37	72					0	0	0.098360	0	0
STRIP2	57464	broad.mit.edu	37	7	129099406	129099406	+	Silent	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr7:129099406G>T	ENST00000249344.2	+	12	1429	c.1389G>T	c.(1387-1389)gtG>gtT	p.V463V	STRIP2_ENST00000435494.2_Silent_p.V463V	NM_020704.2	NP_065755.1			striatin interacting protein 2																		ATGAGAGTGTGAAGACCCTAA	0.517000													8	75					1.06961e-07	1.20864e-07	0.038147	1	0
SMARCA2	6595	broad.mit.edu	37	9	2054631	2054631	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr9:2054631C>A	ENST00000382203.1	+	6	1290	c.1081C>A	c.(1081-1083)Ctg>Atg	p.L361M	SMARCA2_ENST00000349721.2_Missense_Mutation_p.L361M|SMARCA2_ENST00000357248.2_Missense_Mutation_p.L361M|SMARCA2_ENST00000382194.1_Missense_Mutation_p.L361M			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	361					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GATACAAGAACTGGAAAATCT	0.413000													46	100					4.53413e-08	5.14504e-08	0.045515	1	0
C20orf26	26074	broad.mit.edu	37	20	20243767	20243767	+	Silent	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr20:20243767C>T	ENST00000245957.5	+	21	2572	c.2496C>T	c.(2494-2496)acC>acT	p.T832T	RP5-1096J16.1_ENST00000460400.1_RNA|C20orf26_ENST00000389656.3_Silent_p.T188T|C20orf26_ENST00000377293.1_Silent_p.T188T|C20orf26_ENST00000377309.2_Silent_p.T188T	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	832										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		ACTCCATCACCACAGAAGGTA	0.408000													55	67					0	0	0.048971	0	0
STAG2	10735	broad.mit.edu	37	X	123190030	123190030	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chrX:123190030G>C	ENST00000371160.1	+	14	1539	c.1249G>C	c.(1249-1251)Gtt>Ctt	p.V417L	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.V417L|STAG2_ENST00000354548.5_Missense_Mutation_p.V348L|STAG2_ENST00000371145.3_Missense_Mutation_p.V417L|STAG2_ENST00000371144.3_Missense_Mutation_p.V417L|STAG2_ENST00000371157.3_Missense_Mutation_p.V417L			Q8N3U4	STAG2_HUMAN	stromal antigen 2	417					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						CTATCATCTGGTTTATTCAGC	0.363000													10	40					0	0	0.020292	0	0
EPHB4	2050	broad.mit.edu	37	7	100411612	100411612	+	Silent	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr7:100411612C>G	ENST00000358173.3	-	9	2088	c.1620G>C	c.(1618-1620)ctG>ctC	p.L540L	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Silent_p.L540L	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	540					cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					TGCCCGCAATCAGGGCCAGCT	0.637000													28	113					0	0	0.064281	0	0
NRAP	4892	broad.mit.edu	37	10	115377298	115377298	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr10:115377298C>A	ENST00000369358.4	-	26	3157	c.2913G>T	c.(2911-2913)caG>caT	p.Q971H	NRAP_ENST00000360478.3_Missense_Mutation_p.Q928H|NRAP_ENST00000359988.3_Missense_Mutation_p.Q963H|NRAP_ENST00000369360.3_Missense_Mutation_p.Q936H			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	963						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CATCTGGATGCTGACGGTACT	0.398000													63	51					1.12612e-26	1.52507e-26	0.048971	1	0
VAMP7	6845	broad.mit.edu	37	X	155169366	155169366	+	Splice_Site	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chrX:155169366C>G	ENST00000286448.6	+	7	668	c.501_splice	c.e7-1	p.S168_splice	VAMP7_ENST00000262640.6_Splice_Site_p.V145_splice|VAMP7_ENST00000479687.1_3'UTR|VAMP7_ENST00000460621.1_Splice_Site_p.S127_splice	NM_001145149.2|NM_005638.5	NP_001138621.1|NP_005629.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	168	v-SNARE coiled-coil homology.				calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding			large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTTTTCTAGTCTGTCACCTTC	0.373000													8	141					0	0	0.038147	0	0
OR7G3	390883	broad.mit.edu	37	19	9237507	9237507	+	Silent	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr19:9237507C>A	ENST00000305444.2	-	1	119	c.120G>T	c.(118-120)ctG>ctT	p.L40L		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GCAGGTTCCCCAGCATTGTGG	0.542000													14	54					0.00185496	0.00191904	0.105934	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33624377	33624377	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr5:33624377C>G	ENST00000504830.1	-	14	2437	c.2102G>C	c.(2101-2103)tGc>tCc	p.C701S	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Intron	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	701	Spacer 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CACAGTCTGGCAGGAAGAGCC	0.498000										HNSCC(64;0.19)			44	63					0	0	0.104719	0	0
PARP4	143	broad.mit.edu	37	13	25044048	25044048	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr13:25044048T>C	ENST00000381989.3	-	16	2135	c.2030A>G	c.(2029-2031)aAg>aGg	p.K677R		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	677	VIT.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AACTATGTGCTTCCCATTGAT	0.468000													10	51					0	0	0.069234	0	0
TMC6	11322	broad.mit.edu	37	17	76120773	76120773	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr17:76120773G>T	ENST00000590602.1	-	8	882	c.723C>A	c.(721-723)ttC>ttA	p.F241L	TMC6_ENST00000589553.1_Missense_Mutation_p.F14L|TMC6_ENST00000322914.3_Missense_Mutation_p.F241L|TMC6_ENST00000392467.3_Missense_Mutation_p.F241L|TMC6_ENST00000322933.4_5'UTR|TMC6_ENST00000306591.7_Missense_Mutation_p.F241L			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	241						endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CGCTGGAGCCGAACTGGCCCC	0.662000													5	13					1.23904e-05	1.33836e-05	0.014758	1	0
SPATA18	132671	broad.mit.edu	37	4	52944931	52944931	+	Silent	SNP	A	A	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr4:52944931A>C	ENST00000295213.4	+	8	1425	c.1051A>C	c.(1051-1053)Aga>Cga	p.R351R	SPATA18_ENST00000419395.2_Silent_p.R319R	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	351					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			AATGGCATTCAGACACTTCAA	0.383000													42	30					0	0	0.111260	0	0
SYCE1	93426	broad.mit.edu	37	10	135368927	135368927	+	Silent	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr10:135368927C>G	ENST00000368517.3	-	12	876	c.738G>C	c.(736-738)ctG>ctC	p.L246L	SYCE1_ENST00000343131.5_Silent_p.L282L|SYCE1_ENST00000432597.2_Silent_p.L246L|SPRN_ENST00000541506.1_Intron	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	282					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CATGCTTTTCCAGCTCTTCCT	0.562000													6	75					0	0	0.029380	0	0
KLK4	9622	broad.mit.edu	37	19	51410224	51410224	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr19:51410224G>C	ENST00000324041.1	-	5	730	c.731C>G	c.(730-732)aCt>aGt	p.T244S	KLK4_ENST00000431178.2_3'UTR	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	244	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		TATCCACTCAGTGAATTTGCA	0.517000													62	142					0	0	0.048971	0	0
NNMT	4837	broad.mit.edu	37	11	114182768	114182768	+	Splice_Site	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr11:114182768G>C	ENST00000535401.1	+	5	628	c.362_splice	c.e5-1	p.V122_splice	NNMT_ENST00000299964.3_Splice_Site_p.V122_splice|NNMT_ENST00000545255.1_5'UTR|RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000542647.1_5'UTR|NNMT_ENST00000541754.1_5'UTR			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	122					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	GTTTTTCAGAGTCAAGGGTCC	0.527000													36	55					0	0	0.080422	0	0
GABRR1	2569	broad.mit.edu	37	6	89895127	89895127	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr6:89895127C>T	ENST00000435811.1	-	6	1101	c.647G>A	c.(646-648)gGc>gAc	p.G216D	GABRR1_ENST00000369451.3_Missense_Mutation_p.G146D|GABRR1_ENST00000454853.2_Missense_Mutation_p.G233D	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	233					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	GGAGTCATTGCCCTTTTTCCA	0.493000													51	78					0	0	0.048971	0	0
ARMC4	55130	broad.mit.edu	37	10	28276314	28276314	+	Splice_Site	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr10:28276314C>T	ENST00000305242.5	-	3	475		c.e3+1		ARMC4_ENST00000239715.3_Splice_Site	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4								binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ATTAAGATCACCTTCAACACA	0.418000													5	31					0	0	0.029380	0	0
OR4S2	219431	broad.mit.edu	37	11	55418652	55418652	+	Silent	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr11:55418652C>G	ENST00000312422.2	+	1	273	c.273C>G	c.(271-273)tcC>tcG	p.S91S		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				AAACCATCTCCTATGTGGGGT	0.413000													49	220					0	0	0.048971	0	0
TTN	7273	broad.mit.edu	37	2	179446923	179446923	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr2:179446923C>A	ENST00000589042.1	-	315	66397	c.66173G>T	c.(66172-66174)cGc>cTc	p.R22058L	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R19490L|TTN_ENST00000591111.1_Missense_Mutation_p.R20417L|TTN_ENST00000359218.5_Missense_Mutation_p.R13118L|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R12993L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R13185L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20417	Ig-like 115.						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)			AGGATCACAGCGTCCTGGTGG	0.423000													36	44					7.11191e-15	8.93547e-15	0.054565	1	0
RXRB	6257	broad.mit.edu	37	6	33165612	33165612	+	Silent	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr6:33165612C>T	ENST00000374680.3	-	4	958	c.747G>A	c.(745-747)gtG>gtA	p.V249V	RXRB_ENST00000374685.4_Silent_p.V249V|RXRB_ENST00000544186.1_Silent_p.V59V|RXRB_ENST00000413614.2_Silent_p.V153V	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	249					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	GGCGCTTGTCCACTGTGCAGT	0.577000													11	32					0	0	0.080935	0	0
TRA2A	29896	broad.mit.edu	37	7	23547088	23547088	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr7:23547088T>C	ENST00000297071.4	-	5	808	c.592A>G	c.(592-594)Aag>Gag	p.K198E	TRA2A_ENST00000538367.1_Missense_Mutation_p.K97E|TRA2A_ENST00000392502.4_Missense_Mutation_p.K97E|TRA2A_ENST00000474586.1_5'UTR	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	198	Linker.				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						TGCGCTCTCTTGGTTATAGAA	0.418000													6	206					0	0	0.021553	0	0
ANK3	288	broad.mit.edu	37	10	61844979	61844979	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr10:61844979T>C	ENST00000280772.1	-	31	3972	c.3781A>G	c.(3781-3783)Aca>Gca	p.T1261A	ANK3_ENST00000503366.1_Missense_Mutation_p.T1262A|ANK3_ENST00000355288.2_Missense_Mutation_p.T395A|ANK3_ENST00000373827.2_Missense_Mutation_p.T1255A	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1261					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTTGTTCCTGTGATGTCTTCC	0.408000													30	52					0	0	0.045705	0	0
NCSTN	23385	broad.mit.edu	37	1	160319441	160319441	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:160319441G>T	ENST00000368063.1	+	5	637	c.357G>T	c.(355-357)caG>caT	p.Q119H	NCSTN_ENST00000535857.1_Missense_Mutation_p.Q139H|NCSTN_ENST00000294785.5_Missense_Mutation_p.Q139H|NCSTN_ENST00000392212.4_Missense_Mutation_p.Q119H			Q92542	NICA_HUMAN	nicastrin	139					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTAGTGTACAGTGCCCAAATG	0.507000													21	43					3.62473e-10	4.26579e-10	0.062417	1	0
GPR156	165829	broad.mit.edu	37	3	119886046	119886046	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr3:119886046G>A	ENST00000464295.1	-	10	2723	c.2278C>T	c.(2278-2280)Cgg>Tgg	p.R760W	GPR156_ENST00000315843.3_Missense_Mutation_p.R760W|GPR156_ENST00000461057.1_Missense_Mutation_p.R756W			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	760						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		CAGTAGGGCCGGTGGCAGCGG	0.572000													41	266					0	0	0.086207	0	0
LUM	4060	broad.mit.edu	37	12	91502573	91502573	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr12:91502573G>T	ENST00000266718.4	-	2	638	c.184C>A	c.(184-186)Cca>Aca	p.P62T	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	62	LRRNT.				collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						GGCACCATTGGTACACTTTTC	0.418000													25	59					3.08376e-08	3.50664e-08	0.083992	1	0
GNAL	2774	broad.mit.edu	37	18	11876671	11876671	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr18:11876671T>A	ENST00000334049.6	+	11	1822	c.1214T>A	c.(1213-1215)aTc>aAc	p.I405N	GNAL_ENST00000535980.1_3'UTR|GNAL_ENST00000535121.1_Missense_Mutation_p.I328N|GNAL_ENST00000423027.3_Missense_Mutation_p.I328N|GNAL_ENST00000269162.5_Missense_Mutation_p.I328N|GNAL_ENST00000602628.1_Missense_Mutation_p.I121N	NM_182978.3	NP_892023.1	P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	328					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						AAGTTCTTTATCCGGGACCTG	0.348000													18	142					0	0	0.038395	0	0
ADORA3	140	broad.mit.edu	37	1	112026354	112026354	+	Silent	SNP	C	C	T	rs138837803	byFrequency	TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:112026354C>T	ENST00000369716.4	-	6	1132	c.999G>A	c.(997-999)tcG>tcA	p.S333S	ADORA3_ENST00000369717.4_Silent_p.S252S	NM_020683.6	NP_065734.5	P33765	AA3R_HUMAN	adenosine A3 receptor	0					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	TCAGGACACGCGAGAAGGGCT	0.408000													12	52					0	0	0.080935	0	0
KEAP1	9817	broad.mit.edu	37	19	10602767	10602767	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr19:10602767C>T	ENST00000171111.5	-	3	1358	c.811G>A	c.(811-813)Gtg>Atg	p.V271M	KEAP1_ENST00000393623.2_Missense_Mutation_p.V271M|KEAP1_ENST00000588024.1_5'UTR	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	271	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			TGGCAGCGCACGGCCCGCAGC	0.617000													30	26					0	0	0.045705	0	0
ASPM	259266	broad.mit.edu	37	1	197071758	197071758	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:197071758T>A	ENST00000367409.4	-	18	6879	c.6623A>T	c.(6622-6624)tAc>tTc	p.Y2208F	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2208	IQ 19.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTTATTAAAGTATGTTTGCTG	0.348000													5	90					0	0	0.014758	0	0
DLC1	10395	broad.mit.edu	37	8	12957341	12957341	+	Silent	SNP	A	A	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr8:12957341A>T	ENST00000276297.4	-	9	2914	c.2505T>A	c.(2503-2505)tcT>tcA	p.S835S	DLC1_ENST00000358919.2_Silent_p.S398S|DLC1_ENST00000520226.1_Silent_p.S324S|DLC1_ENST00000512044.2_Silent_p.S432S	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	835					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCCAGTTCACAGAGCCGTTAT	0.557000													39	43					0	0	0.086207	0	0
CUBN	8029	broad.mit.edu	37	10	16948391	16948391	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr10:16948391G>C	ENST00000377833.4	-	50	7788	c.7723C>G	c.(7723-7725)Cca>Gca	p.P2575A		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2575	CUB 19.		P -> R (in dbSNP:rs3740168).		cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGAGTATTTGGAAGAGACCCA	0.423000													17	44					0	0	0.055883	0	0
OR2T1	26696	broad.mit.edu	37	1	248570065	248570065	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:248570065T>C	ENST00000366474.1	+	1	770	c.770T>C	c.(769-771)cTg>cCg	p.L257P		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	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)			GTTTTGATGCTGCTGATTCCT	0.498000													14	109					0	0	0.105934	0	0
LRRC7	57554	broad.mit.edu	37	1	70451994	70451994	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:70451994G>T	ENST00000310961.5	+	11	1175	c.757G>T	c.(757-759)Gac>Tac	p.D253Y	LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000035383.5_Missense_Mutation_p.D248Y			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	248						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGTTGACATGGACATTTCTGG	0.358000													17	42					1.67942e-08	1.91781e-08	0.038395	1	0
PLAG1	5324	broad.mit.edu	37	8	57079654	57079654	+	Silent	SNP	A	A	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr8:57079654A>G	ENST00000316981.3	-	5	1130	c.651T>C	c.(649-651)taT>taC	p.Y217Y	PLAG1_ENST00000429357.2_Silent_p.Y217Y|PLAG1_ENST00000423799.2_Silent_p.Y135Y	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	217	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			TCTGTGCACAATACTGACAGA	0.488000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma								7	67					0	0	0.038147	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274215	39274215	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr17:39274215C>G	ENST00000391413.2	-	1	391	c.353G>C	c.(352-354)aGc>aCc	p.S118T		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	118	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			tctgcagcagctggacacaca	0.652000													19	53					0	0	0.049695	0	0
C19orf47	126526	broad.mit.edu	37	19	40828069	40828069	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr19:40828069C>A	ENST00000582783.1	-	9	1001	c.989G>T	c.(988-990)cGg>cTg	p.R330L	C19orf47_ENST00000392035.2_Missense_Mutation_p.R263L|C19orf47_ENST00000584868.1_5'UTR	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	330										endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			CGCCAGGCGCCGCAGTGTCGG	0.632000													22	44					9.57634e-11	1.13693e-10	0.083992	1	0
DCC	1630	broad.mit.edu	37	18	50961542	50961542	+	Silent	SNP	A	A	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr18:50961542A>T	ENST00000442544.2	+	22	3808	c.3192A>T	c.(3190-3192)ccA>ccT	p.P1064P	DCC_ENST00000581580.1_Silent_p.P699P	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1064					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GTTATTGGCCAGTTGATACTA	0.303000													6	224					0	0	0.029380	0	0
NLRC5	84166	broad.mit.edu	37	16	57059658	57059658	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr16:57059658C>T	ENST00000436936.1	+	6	1028	c.803C>T	c.(802-804)aCg>aTg	p.T268M	NLRC5_ENST00000539144.1_Missense_Mutation_p.T268M|NLRC5_ENST00000308149.7_Missense_Mutation_p.T268M|NLRC5_ENST00000262510.6_Missense_Mutation_p.T268M			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	268	NACHT.				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AACTTGATCACGAGGTTCCTG	0.557000													56	37					0	0	0.048971	0	0
TMEM87B	84910	broad.mit.edu	37	2	112849307	112849307	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr2:112849307G>A	ENST00000283206.4	+	11	1420	c.1051G>A	c.(1051-1053)Gtt>Att	p.V351I	TMEM87B_ENST00000463427.1_3'UTR	NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	351						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						CCATTTAGCTGTTGTTCTTGA	0.303000													10	25					0	0	0.080935	0	0
MACF1	23499	broad.mit.edu	37	1	39760802	39760802	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:39760802C>T	ENST00000564288.1	+	19	3016	c.2239C>T	c.(2239-2241)Cca>Tca	p.P747S	MACF1_ENST00000539005.1_Missense_Mutation_p.P752S|MACF1_ENST00000361689.2_Missense_Mutation_p.P752S|MACF1_ENST00000317713.7_Missense_Mutation_p.P752S|MACF1_ENST00000545844.1_Missense_Mutation_p.P752S|MACF1_ENST00000372915.3_Missense_Mutation_p.P752S|MACF1_ENST00000567887.1_Missense_Mutation_p.P784S			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	752					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGAGAACCACCCAGCCAAGCA	0.413000													13	356					0	0	0.020292	0	0
KRT6A	3853	broad.mit.edu	37	12	52881665	52881665	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr12:52881665C>T	ENST00000330722.6	-	9	1602	c.1534G>A	c.(1534-1536)Gga>Aga	p.G512R		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	512	Tail.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		TAGCTGCTTCCTCCACCCAGG	0.627000													9	92					0	0	0.047766	0	0
ALG10B	144245	broad.mit.edu	37	12	38714214	38714214	+	Silent	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr12:38714214G>A	ENST00000308742.4	+	3	937	c.621G>A	c.(619-621)gaG>gaA	p.E207E	ALG10B_ENST00000551464.1_Intron	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	207					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				AGTTAACTGAGGCTTGGAAAA	0.398000													85	184					0	0	0.048971	0	0
DNM3	26052	broad.mit.edu	37	1	172013594	172013594	+	Splice_Site	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:172013594C>G	ENST00000358155.4	+	9	1372		c.e9+2		DNM3_ENST00000520906.1_Splice_Site|DNM3_ENST00000367733.2_Splice_Site|DNM3_ENST00000367731.1_Splice_Site|DNM3_ENST00000355305.5_Splice_Site	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3						endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TGGTATCAGGCAAGTGATTCA	0.343000													7	7					0	0	0.038147	0	0
TRIM31	11074	broad.mit.edu	37	6	30071450	30071450	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr6:30071450C>T	ENST00000376734.3	-	9	1266	c.1141G>A	c.(1141-1143)Gat>Aat	p.D381N	TRIM31_ENST00000540829.1_Missense_Mutation_p.D381N	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	381						mitochondrion	ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						GAAATCTCATCATAAGAGGCC	0.557000													7	110					0	0	0.029380	0	0
WDR26	80232	broad.mit.edu	37	1	224605976	224605976	+	Silent	SNP	G	G	A	rs140689711		TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:224605976G>A	ENST00000414423.2	-	6	1198	c.1005C>T	c.(1003-1005)gaC>gaT	p.D335D	WDR26_ENST00000366852.2_3'UTR|WDR26_ENST00000295024.6_Silent_p.D188D	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	335						cytoplasm|nucleus				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		TACAAACATGGTCTATAAGCA	0.373000													50	96					0	0	0.048971	0	0
SMPDL3A	10924	broad.mit.edu	37	6	123116820	123116820	+	Splice_Site	SNP	A	A	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr6:123116820A>T	ENST00000368440.4	+	2	289		c.e2-1		SMPDL3A_ENST00000487215.1_Splice_Site|SMPDL3A_ENST00000539041.1_Intron	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A						sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity			breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		TGTAATCAACAGGACAGTTTT	0.373000													14	51					0	0	0.020292	0	0
ZFP30	22835	broad.mit.edu	37	19	38134227	38134227	+	Silent	SNP	T	T	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr19:38134227T>A	ENST00000351218.2	-	5	731	c.174A>T	c.(172-174)ctA>ctT	p.L58L	ZFP30_ENST00000392144.1_Silent_p.L58L|ZFP30_ENST00000589018.1_Silent_p.L57L|ZFP30_ENST00000514101.2_Silent_p.L58L	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	58	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTTGTTCCAATAGGGTGATCA	0.378000													79	159					0	0	0.048971	0	0
COL5A2	1290	broad.mit.edu	37	2	189916084	189916084	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr2:189916084G>A	ENST00000374866.3	-	42	3167	c.2893C>T	c.(2893-2895)Cca>Tca	p.P965S		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	965					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TTGTCTCCTGGGCCACCAGGG	0.582000													18	64					0	0	0.038395	0	0
CARD11	84433	broad.mit.edu	37	7	2962845	2962845	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr7:2962845C>G	ENST00000396946.4	-	16	2466	c.2063G>C	c.(2062-2064)cGa>cCa	p.R688P		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	688	PDZ.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GAAGCTCCCTCGCGCGTTGCC	0.701000			Mis		DLBCL								24	51					0	0	0.076483	0	0
GDI1	2664	broad.mit.edu	37	X	153670128	153670128	+	Silent	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chrX:153670128C>G	ENST00000447750.2	+	8	1313	c.978C>G	c.(976-978)gtC>gtG	p.V326V	GDI1_ENST00000465640.1_3'UTR	NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	326					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGAACCAGGTCAACAGGAAGT	0.547000													40	32					0	0	0.104719	0	0
FOXJ3	22887	broad.mit.edu	37	1	42660660	42660660	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:42660660C>G	ENST00000372572.1	-	10	1146	c.835G>C	c.(835-837)Gac>Cac	p.D279H	FOXJ3_ENST00000372573.1_Missense_Mutation_p.D279H|FOXJ3_ENST00000361776.1_Missense_Mutation_p.D245H|FOXJ3_ENST00000361346.1_Missense_Mutation_p.D279H|FOXJ3_ENST00000545068.1_Missense_Mutation_p.D279H	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	279					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGTTGCTTGTCTCTTTCTGGA	0.383000													68	261					0	0	0.048971	0	0
NEIL2	252969	broad.mit.edu	37	8	11628971	11628971	+	Silent	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr8:11628971G>A	ENST00000284503.6	+	2	614	c.15G>A	c.(13-15)ccG>ccA	p.P5P	NEIL2_ENST00000528323.1_Silent_p.P5P|NEIL2_ENST00000436750.3_Silent_p.P5P|NEIL2_ENST00000455213.2_Silent_p.P5P|NEIL2_ENST00000403422.3_Intron	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	nei endonuclease VIII-like 2 (E. coli)	5					base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		CAGAAGGGCCGTTGGTGAGGA	0.542000								Base excision repair (BER), DNA glycosylases					4	77					0	0	0.009096	0	0
NDNF	79625	broad.mit.edu	37	4	121958648	121958648	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr4:121958648T>C	ENST00000379692.4	-	4	1004	c.478A>G	c.(478-480)Aaa>Gaa	p.K160E	NDNF_ENST00000506900.1_5'UTR	NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	160										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						GCATATACTTTGAAATGTGTG	0.448000													63	55					0	0	0.048971	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74575191	74575191	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:74575191C>A	ENST00000354431.4	-	5	945	c.754G>T	c.(754-756)Gga>Tga	p.G252*	LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000395089.1_Nonsense_Mutation_p.G252*|LRRIQ3_ENST00000370909.2_Nonsense_Mutation_p.G144*	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	252										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						GCTTCATATCCTCTAATAATT	0.323000													5	37					1.23904e-05	1.33836e-05	0.014758	1	0
GRIK2	2898	broad.mit.edu	37	6	102516386	102516386	+	Nonstop_Mutation	SNP	A	A	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr6:102516386A>C	ENST00000421544.1	+	16	3217	c.2727A>C	c.(2725-2727)taA>taC	p.*909Y	GRIK2_ENST00000413795.1_3'UTR|GRIK2_ENST00000369138.1_3'UTR|GRIK2_ENST00000369134.4_Nonstop_Mutation_p.*860Y|GRIK2_ENST00000369137.3_Nonstop_Mutation_p.*833Y	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	0					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	CCATGGCATAAAGCTGGGAGG	0.408000													8	28					0	0	0.038147	0	0
EPHA10	284656	broad.mit.edu	37	1	38227456	38227456	+	Silent	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:38227456C>T	ENST00000373048.4	-	3	470	c.471G>A	c.(469-471)gcG>gcA	p.A157A	EPHA10_ENST00000319637.6_Silent_p.A157A|EPHA10_ENST00000427468.2_Silent_p.A157A	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	157						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGCTCTCGTCCGCCGCGATCG	0.662000													22	133					0	0	0.062417	0	0
APOO	79135	broad.mit.edu	37	X	23897136	23897136	+	Missense_Mutation	SNP	C	C	G	rs140548900		TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chrX:23897136C>G	ENST00000379226.4	-	3	364	c.133G>C	c.(133-135)Gtt>Ctt	p.V45L	APOO_ENST00000379220.3_Missense_Mutation_p.V45L	NM_024122.4	NP_077027.1	Q9BUR5	APOO_HUMAN	apolipoprotein O	45					lipid transport	high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						CCCTCAGGAACTGAGTAGAGT	0.398000													33	13					0	0	0.054565	0	0
RP1L1	94137	broad.mit.edu	37	8	10469381	10469381	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr8:10469381C>A	ENST00000382483.3	-	4	2450	c.2227G>T	c.(2227-2229)Gca>Tca	p.A743S		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	743					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GAGTGGACTGCAGGGGTGACA	0.652000													37	25					3.3946e-10	4.02129e-10	0.080422	1	0
ZNF471	57573	broad.mit.edu	37	19	57037085	57037085	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr19:57037085A>G	ENST00000308031.5	+	5	1782	c.1649A>G	c.(1648-1650)aAa>aGa	p.K550R	ZNF471_ENST00000591537.1_3'UTR|ZNF471_ENST00000593197.1_3'UTR	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	550					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		GAATGCGGGAAAGCCTTCAGC	0.388000													11	99					0	0	0.093190	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146471385	146471385	+	Silent	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr7:146471385C>A	ENST00000361727.3	+	2	636	c.120C>A	c.(118-120)gtC>gtA	p.V40V		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	40	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGCCACTTGTCTCTGGACTCC	0.443000										HNSCC(39;0.1)			14	36					6.31663e-08	7.15265e-08	0.024245	1	0
MARCH6	10299	broad.mit.edu	37	5	10415612	10415612	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr5:10415612G>T	ENST00000274140.5	+	21	2111	c.1979G>T	c.(1978-1980)cGt>cTt	p.R660L	MARCH6_ENST00000449913.2_Missense_Mutation_p.R612L|MARCH6_ENST00000510792.1_Missense_Mutation_p.R358L|MARCH6_ENST00000503788.1_Missense_Mutation_p.R555L	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	660					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TTTGCTGGCCGTTGGTTAATG	0.413000													63	95					2.165e-29	2.96176e-29	0.048971	1	0
PCDH15	65217	broad.mit.edu	37	10	55587283	55587283	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr10:55587283C>A	ENST00000373965.2	-	33	4652	c.4258G>T	c.(4258-4260)Gca>Tca	p.A1420S	PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.A1373S|PCDH15_ENST00000409834.1_Missense_Mutation_p.A1024S|PCDH15_ENST00000414778.1_Missense_Mutation_p.A1415S|PCDH15_ENST00000320301.6_Missense_Mutation_p.A1413S|PCDH15_ENST00000395438.1_Missense_Mutation_p.A1413S|PCDH15_ENST00000395433.1_Missense_Mutation_p.A1388S|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.A1420S|PCDH15_ENST00000361849.3_Missense_Mutation_p.A1413S|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.A1342S|PCDH15_ENST00000395430.1_Missense_Mutation_p.A1410S	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1413					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGAATTCGTGCAGTCTTTGTA	0.532000										HNSCC(58;0.16)			19	35					3.62473e-10	4.26579e-10	0.062417	1	0
OR8H1	219469	broad.mit.edu	37	11	56058516	56058516	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr11:56058516T>C	ENST00000313022.2	-	1	50	c.23A>G	c.(22-24)aAt>aGt	p.N8S		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GTCAGGCACATTTGTGTTATT	0.373000													28	79					0	0	0.108266	0	0
PCDH20	64881	broad.mit.edu	37	13	61986436	61986436	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr13:61986436C>G	ENST00000409186.1	-	5	3901	c.1796G>C	c.(1795-1797)cGa>cCa	p.R599P	PCDH20_ENST00000409204.4_Missense_Mutation_p.R599P			Q8N6Y1	PCD20_HUMAN	protocadherin 20	572	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TTTCTCTTCTCGGTCCAGCTG	0.458000													35	63					0	0	0.050027	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269947	150269947	+	Silent	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr7:150269947C>A	ENST00000255945.2	+	3	964	c.789C>A	c.(787-789)atC>atA	p.I263I	GIMAP4_ENST00000461940.1_Silent_p.I277I|GIMAP4_ENST00000494750.1_3'UTR	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	263							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAGAGAAAATCAGAAAGCTGG	0.463000													14	37					1.5842e-08	1.81677e-08	0.105934	1	0
HOXD1	3231	broad.mit.edu	37	2	177054664	177054664	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr2:177054664G>C	ENST00000331462.4	+	2	1004	c.781G>C	c.(781-783)Gag>Cag	p.E261Q		NM_024501.1	NP_078777.1	Q9GZZ0	HXD1_HUMAN	homeobox D1	261						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)		CCGGCGCATCGAGATAGCCAA	0.498000													6	188					0	0	0.021553	0	0
TENM1	10178	broad.mit.edu	37	X	123870989	123870989	+	Silent	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chrX:123870989C>T	ENST00000422452.2	-	4	657	c.594G>A	c.(592-594)ccG>ccA	p.P198P	TENM1_ENST00000371130.3_Silent_p.P198P	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.P200P(1)									CATGAGGAGGCGGAGGTGGCG	0.572000													4	51					0	0	0.009096	0	0
ITGA3	3675	broad.mit.edu	37	17	48153757	48153757	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr17:48153757C>T	ENST00000320031.8	+	13	2072	c.1742C>T	c.(1741-1743)cCc>cTc	p.P581L	ITGA3_ENST00000544892.1_3'UTR|ITGA3_ENST00000007722.7_Missense_Mutation_p.P581L	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	581					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						TTGCGGATGCCCGATCGCCCC	0.642000													10	266					0	0	0.069234	0	0
RTTN	25914	broad.mit.edu	37	18	67794907	67794907	+	Silent	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr18:67794907G>A	ENST00000255674.6	-	25	3500	c.3214C>T	c.(3214-3216)Ctg>Ttg	p.L1072L	RTTN_ENST00000437017.1_Silent_p.L1072L|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1072							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CAGTCCTGCAGCCCACTAGCC	0.433000													15	29					0	0	0.028581	0	0
KIRREL2	84063	broad.mit.edu	37	19	36349635	36349635	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr19:36349635G>T	ENST00000360202.5	+	4	589	c.391G>T	c.(391-393)Ggc>Tgc	p.G131C	NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000347900.6_Missense_Mutation_p.G81C|KIRREL2_ENST00000262625.7_Missense_Mutation_p.G131C|KIRREL2_ENST00000586102.2_Missense_Mutation_p.G131C|KIRREL2_ENST00000592409.1_Missense_Mutation_p.G131C	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	131	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGTGCTGGGCGGCCCCTCTGT	0.617000													62	88					1.45723e-30	1.99859e-30	0.048971	1	0
SCP2	6342	broad.mit.edu	37	1	53427185	53427185	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:53427185G>A	ENST00000371514.3	+	6	575	c.407G>A	c.(406-408)aGa>aAa	p.R136K	SCP2_ENST00000371513.5_Missense_Mutation_p.R92K|SCP2_ENST00000371509.4_Missense_Mutation_p.R92K|SCP2_ENST00000407246.2_Missense_Mutation_p.R112K|SCP2_ENST00000528311.1_Missense_Mutation_p.R55K	NM_002979.4	NP_002970.2	P22307	NLTP_HUMAN	sterol carrier protein 2	136					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						TTTTCAGATAGAACCATTCCC	0.378000													22	483					0	0	0.091800	0	0
POMC	5443	broad.mit.edu	37	2	25384441	25384441	+	Missense_Mutation	SNP	C	C	G	rs121918111		TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr2:25384441C>G	ENST00000405623.1	-	3	768	c.313G>C	c.(313-315)Gag>Cag	p.E105Q	POMC_ENST00000395826.2_Missense_Mutation_p.E105Q|POMC_ENST00000264708.3_Missense_Mutation_p.E105Q|POMC_ENST00000380794.1_Missense_Mutation_p.E105Q			P01189	COLI_HUMAN	proopiomelanocortin	105					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	GAGACGTCCTCGCGCTTCTGC	0.736000													2	2					0	0	0.004672	0	0
TTN	7273	broad.mit.edu	37	2	179458844	179458844	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr2:179458844C>A	ENST00000589042.1	-	297	58500	c.58276G>T	c.(58276-58278)Gat>Tat	p.D19426Y	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D16858Y|TTN_ENST00000591111.1_Missense_Mutation_p.D17785Y|TTN_ENST00000359218.5_Missense_Mutation_p.D10486Y|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D10361Y|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D10553Y|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17785	Fibronectin type-III 41.						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)			TCCAGCACATCAGCTTCATCT	0.458000													31	45					1.39806e-14	1.74838e-14	0.037714	1	0
IPO11	51194	broad.mit.edu	37	5	61847062	61847062	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr5:61847062G>A	ENST00000325324.6	+	26	2528	c.2359G>A	c.(2359-2361)Gtg>Atg	p.V787M	IPO11_ENST00000409296.3_Missense_Mutation_p.V827M	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	787						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		GTATCCTGTAGTGATGTCCAC	0.343000													9	69					0	0	0.058154	0	0
FAT1	2195	broad.mit.edu	37	4	187629040	187629040	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr4:187629040T>C	ENST00000441802.2	-	2	2151	c.1942A>G	c.(1942-1944)Aca>Gca	p.T648A		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	648	Cadherin 5.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCTCCATCTGTAGCTGTGATT	0.438000										HNSCC(5;0.00058)			43	39					0	0	0.048971	0	0
ZNF536	9745	broad.mit.edu	37	19	30935518	30935518	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr19:30935518G>T	ENST00000355537.3	+	2	1196	c.1049G>T	c.(1048-1050)tGc>tTc	p.C350F		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGCGAGGTGTGCGGTCAGGTG	0.652000													59	145					1.16596e-39	1.62811e-39	0.048971	1	0
MUC17	140453	broad.mit.edu	37	7	100684469	100684469	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr7:100684469G>T	ENST00000306151.4	+	3	9836	c.9772G>T	c.(9772-9774)Gaa>Taa	p.E3258*		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3258	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACTTCTACTGAAGCCAGTTC	0.507000													90	754					4.65891e-64	6.59095e-64	0.048971	1	0
SLC39A8	64116	broad.mit.edu	37	4	103189159	103189159	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr4:103189159C>A	ENST00000424970.2	-	7	1233	c.918G>T	c.(916-918)atG>atT	p.M306I	SLC39A8_ENST00000394833.2_Missense_Mutation_p.M306I|SLC39A8_ENST00000356736.4_Missense_Mutation_p.M306I	NM_001135147.1	NP_001128619.1	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter), member 8	306						integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		AGAGCGTTATCATCCAGGCAA	0.473000													59	33					1.19403e-26	1.61299e-26	0.048971	1	0
OBSCN	84033	broad.mit.edu	37	1	228550329	228550329	+	Silent	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:228550329G>A	ENST00000570156.2	+	91	21659	c.21585G>A	c.(21583-21585)ctG>ctA	p.L7195L	OBSCN_ENST00000422127.1_Silent_p.L6238L|OBSCN_ENST00000366707.4_Silent_p.L3872L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6238					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGAAGAGACTGCTGGGCCCCA	0.692000													8	39					0	0	0.047766	0	0
POMGNT1	55624	broad.mit.edu	37	1	46662402	46662402	+	Splice_Site	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:46662402C>T	ENST00000396420.3	-	4	991		c.e4+1		POMGNT1_ENST00000371984.3_Splice_Site|POMGNT1_ENST00000535522.1_Splice_Site|POMGNT1_ENST00000371986.3_Splice_Site|POMGNT1_ENST00000371992.1_Splice_Site			Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)						protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					GGCCCACTGACCGTGGTGCCA	0.602000													22	260					0	0	0.083992	0	0
FKBP6	8468	broad.mit.edu	37	7	72754751	72754751	+	Silent	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr7:72754751C>A	ENST00000252037.4	+	6	769	c.700C>A	c.(700-702)Cga>Aga	p.R234R	FKBP6_ENST00000431982.2_Silent_p.R229R|FKBP6_ENST00000413573.2_Silent_p.R204R	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	234					protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				GAAGCTAGACCGACCCACCAT	0.562000													26	44					3.28513e-13	4.03345e-13	0.091800	1	0
ENPP2	5168	broad.mit.edu	37	8	120613649	120613649	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr8:120613649G>T	ENST00000427067.2	-	10	1055	c.875C>A	c.(874-876)cCa>cAa	p.P292Q	ENPP2_ENST00000075322.6_Missense_Mutation_p.P296Q|ENPP2_ENST00000522826.1_Missense_Mutation_p.P296Q|ENPP2_ENST00000259486.6_Missense_Mutation_p.P296Q			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	296					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CTCATGATCTGGCAGGGTGAG	0.413000													36	29					6.97489e-18	8.9511e-18	0.074837	1	0
NRAP	4892	broad.mit.edu	37	10	115377299	115377299	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr10:115377299T>G	ENST00000369358.4	-	26	3156	c.2912A>C	c.(2911-2913)cAg>cCg	p.Q971P	NRAP_ENST00000360478.3_Missense_Mutation_p.Q928P|NRAP_ENST00000359988.3_Missense_Mutation_p.Q963P|NRAP_ENST00000369360.3_Missense_Mutation_p.Q936P			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	963						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		ATCTGGATGCTGACGGTACTT	0.398000													64	51					0	0	0.048971	0	0
ZNF536	9745	broad.mit.edu	37	19	30934735	30934735	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr19:30934735G>A	ENST00000355537.3	+	2	413	c.266G>A	c.(265-267)gGc>gAc	p.G89D		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	89					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AACCAGCTGGGCCGGGAGGTG	0.662000													13	26					0	0	0.093190	0	0
OR5M11	219487	broad.mit.edu	37	11	56310498	56310498	+	Missense_Mutation	SNP	G	G	T	rs140259136	by1000genomes	TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr11:56310498G>T	ENST00000528616.2	-	1	259	c.236C>A	c.(235-237)cCg>cAg	p.P79Q		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						CGACATCTGCGGGGTTGCATT	0.423000													8	104					0.000274275	0.000287615	0.047766	1	0
SGCD	6444	broad.mit.edu	37	5	155935673	155935673	+	Silent	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr5:155935673C>T	ENST00000435422.3	+	3	739	c.252C>T	c.(250-252)ttC>ttT	p.F84F	SGCD_ENST00000447401.1_Silent_p.F85F|SGCD_ENST00000517913.1_Silent_p.F85F|SGCD_ENST00000337851.4_Silent_p.F85F	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	84					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)			ACTCTGAATTCTTACAACCTC	0.408000													15	9					0	0	0.024245	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14851722	14851722	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr18:14851722C>A	ENST00000358984.4	+	36	3602	c.3422C>A	c.(3421-3423)gCa>gAa	p.A1141E		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1226										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ACAAAAAGGGCATCTCAGTAT	0.348000													14	27					3.32936e-07	3.7077e-07	0.038395	1	0
ULBP3	79465	broad.mit.edu	37	6	150385775	150385775	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr6:150385775T>G	ENST00000367339.1	-	4	731	c.703A>C	c.(703-705)Atc>Ctc	p.I235L	ULBP3_ENST00000438272.2_Missense_Mutation_p.I235L			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3	235					antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		CAGAGGATGATGAGGAAGCTC	0.532000													41	50					0	0	0.045515	0	0
ASIC4	55515	broad.mit.edu	37	2	220379743	220379743	+	Silent	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr2:220379743G>A	ENST00000358078.4	+	1	692	c.678G>A	c.(676-678)gtG>gtA	p.V226V	AC053503.11_ENST00000429882.1_RNA|ASIC4_ENST00000347842.3_Silent_p.V226V			Q96FT7	ACCN4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	226						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										CTCACCTGGTGGCAATGGACC	0.682000													16	21					0	0	0.049695	0	0
PLEC	5339	broad.mit.edu	37	8	144996895	144996895	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr8:144996895T>A	ENST00000322810.4	-	31	7782	c.7613A>T	c.(7612-7614)gAg>gTg	p.E2538V	PLEC_ENST00000398774.2_Missense_Mutation_p.E2369V|PLEC_ENST00000354589.3_Missense_Mutation_p.E2401V|PLEC_ENST00000436759.2_Missense_Mutation_p.E2428V|PLEC_ENST00000354958.2_Missense_Mutation_p.E2379V|PLEC_ENST00000357649.2_Missense_Mutation_p.E2405V|PLEC_ENST00000356346.3_Missense_Mutation_p.E2387V|PLEC_ENST00000345136.3_Missense_Mutation_p.E2401V|PLEC_ENST00000527096.1_Missense_Mutation_p.E2424V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2538	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTGGGCGTCCTCCTCAGCGCG	0.692000													20	7					0	0	0.049695	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28315771	28315771	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr21:28315771T>A	ENST00000284987.5	-	3	1454	c.1333A>T	c.(1333-1335)Agc>Tgc	p.S445C		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	445	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GCATCAATGCTGGTAAGGATG	0.448000													19	9					0	0	0.038395	0	0
LYPD4	147719	broad.mit.edu	37	19	42342153	42342153	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr19:42342153G>T	ENST00000330743.3	-	4	1605	c.394C>A	c.(394-396)Cct>Act	p.P132T	LYPD4_ENST00000601246.1_Missense_Mutation_p.P97T|LYPD4_ENST00000343055.4_Missense_Mutation_p.P97T	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	132						anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						ATAGACTTAGGAGTGCTGGCC	0.522000													17	85					3.41278e-10	4.03397e-10	0.033300	1	0
SLC22A1	6580	broad.mit.edu	37	6	160553392	160553392	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr6:160553392G>C	ENST00000366963.4	+	3	791	c.644G>C	c.(643-645)gGc>gCc	p.G215A	SLC22A1_ENST00000324965.4_Missense_Mutation_p.G215A|SLC22A1_ENST00000457470.2_Missense_Mutation_p.G215A	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	215						basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		GTCAGCAAGGGCAACTGGATG	0.582000													16	67					0	0	0.024245	0	0
RP11-44F14.1	0	broad.mit.edu	37	16	53403293	53403293	+	RNA	SNP	A	A	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr16:53403293A>G	ENST00000565421.1	-	0	1324																											gaaagaaaaTAGGGAAGATTT	0.413000													8	3					0	0	0.047766	0	0
PPFIA1	8500	broad.mit.edu	37	11	70194393	70194393	+	Nonsense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr11:70194393C>G	ENST00000253925.7	+	16	2245	c.2030C>G	c.(2029-2031)tCa>tGa	p.S677*	PPFIA1_ENST00000389547.3_Nonsense_Mutation_p.S677*|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	677					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CGTTTTAGATCAATGAGCTCC	0.542000													31	220					0	0	0.045705	0	0
COL20A1	57642	broad.mit.edu	37	20	61942872	61942872	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr20:61942872G>A	ENST00000422202.1	+	11	1609	c.1541G>A	c.(1540-1542)gGt>gAt	p.G514D	COL20A1_ENST00000358894.6_Missense_Mutation_p.G507D|COL20A1_ENST00000435874.1_Missense_Mutation_p.G514D|COL20A1_ENST00000326996.6_Missense_Mutation_p.G507D			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	507	Fibronectin type-III 3.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					TCCCCCAAGGGTGAAGAGGAG	0.697000													4	9					0	0	0.009096	0	0
UBAP2L	9898	broad.mit.edu	37	1	154218759	154218759	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:154218759C>G	ENST00000428931.1	+	11	1089	c.922C>G	c.(922-924)Cct>Gct	p.P308A	UBAP2L_ENST00000361546.2_Missense_Mutation_p.P308A|UBAP2L_ENST00000343815.6_Missense_Mutation_p.P308A|UBAP2L_ENST00000271877.7_Missense_Mutation_p.P319A	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	308					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GTCTCAGGCTCCTTCTCTGGC	0.483000													6	136					0	0	0.021553	0	0
JADE3	9767	broad.mit.edu	37	X	46913776	46913776	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chrX:46913776G>A	ENST00000218343.4	+	9	1487	c.1189G>A	c.(1189-1191)Gca>Aca	p.A397T	PHF16_ENST00000397189.1_Missense_Mutation_p.A397T	NM_014735.3	NP_055550.1	Q92613	JADE3_HUMAN		397					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						CAGCCTGCGGGCACAGAAGCT	0.547000													8	25					0	0	0.038147	0	0
LRRC7	57554	broad.mit.edu	37	1	70451993	70451993	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:70451993G>T	ENST00000310961.5	+	11	1174	c.756G>T	c.(754-756)atG>atT	p.M252I	LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000035383.5_Missense_Mutation_p.M247I			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	247						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CAGTTGACATGGACATTTCTG	0.358000													17	44					1.67942e-08	1.91781e-08	0.038395	1	0
HCN1	348980	broad.mit.edu	37	5	45645392	45645392	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr5:45645392G>T	ENST00000303230.4	-	2	801	c.744C>A	c.(742-744)taC>taA	p.Y248*		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	248						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGGCTGTCTTGTAAACTTCAG	0.358000													20	42					9.7654e-05	0.000103207	0.043863	1	0
ESF1	51575	broad.mit.edu	37	20	13756902	13756902	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr20:13756902T>G	ENST00000202816.1	-	3	759	c.652A>C	c.(652-654)Atg>Ctg	p.M218L		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TCTCTTGTCATTATGAGTTGA	0.353000													19	145					0	0	0.038395	0	0
FOS	2353	broad.mit.edu	37	14	75747933	75747933	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr14:75747933G>C	ENST00000303562.4	+	4	1158	c.949G>C	c.(949-951)Gcc>Ccc	p.A317P	FOS_ENST00000555686.1_Missense_Mutation_p.A203P|FOS_ENST00000535987.1_Missense_Mutation_p.A281P|FOS_ENST00000555347.1_Missense_Mutation_p.A169P	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog	317					cellular response to reactive oxygen species|DNA methylation|inflammatory response|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|SMAD protein signal transduction|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|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)		GGGGCCCATGGCCACAGAGCT	0.622000													9	140					0	0	0.069234	0	0
RYR2	6262	broad.mit.edu	37	1	237823330	237823330	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:237823330A>C	ENST00000366574.2	+	55	8571	c.8254A>C	c.(8254-8256)Aag>Cag	p.K2752Q	RYR2_ENST00000360064.6_Missense_Mutation_p.K2750Q|RYR2_ENST00000542537.1_Missense_Mutation_p.K2736Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2752	4 X approximate repeats.|Modulator (Potential).				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)			AGACTCTTCTAAGGTTCAGCC	0.279000													7	15					0	0	0.038147	0	0
GPC2	221914	broad.mit.edu	37	7	99769770	99769770	+	Silent	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr7:99769770C>A	ENST00000292377.2	-	6	1130	c.963G>T	c.(961-963)ggG>ggT	p.G321G	GPC2_ENST00000471050.1_5'UTR	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	321						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGATCTTCACCCCAATGGACT	0.582000													24	97					1.10513e-12	1.34766e-12	0.069288	1	0
ABRA	137735	broad.mit.edu	37	8	107782048	107782048	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr8:107782048A>T	ENST00000311955.3	-	1	425	c.371T>A	c.(370-372)gTg>gAg	p.V124E		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	124					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			GAGGTGGCTCACGTCCCCTCC	0.537000													9	136					0	0	0.047766	0	0
IGF2BP2	10644	broad.mit.edu	37	3	185369906	185369906	+	Silent	SNP	G	G	A	rs145090990		TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr3:185369906G>A	ENST00000382199.2	-	13	1532	c.1437C>T	c.(1435-1437)acC>acT	p.T479T	IGF2BP2_ENST00000346192.3_Silent_p.T436T|IGF2BP2_ENST00000457616.2_Silent_p.T485T|IGF2BP2_ENST00000494906.1_5'UTR|IGF2BP2_ENST00000421047.2_Silent_p.T422T	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	479	KH 3.				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			CCGGTGGCCCGGTGATGATGA	0.602000													11	66					0	0	0.093190	0	0
MMP24	10893	broad.mit.edu	37	20	33859374	33859374	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr20:33859374G>A	ENST00000246186.6	+	8	1421	c.1336G>A	c.(1336-1338)Gac>Aac	p.D446N	RP4-614O4.11_ENST00000444717.1_RNA|MMP24-AS1_ENST00000566203.1_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000453892.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000438751.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	446	Hemopexin-like 2.				proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GGCCACAGGTGACAAGTATTG	0.592000													7	13					0	0	0.069234	0	0
HECTD1	25831	broad.mit.edu	37	14	31585576	31585576	+	Silent	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr14:31585576C>A	ENST00000399332.1	-	30	5972	c.5484G>T	c.(5482-5484)acG>acT	p.T1828T	HECTD1_ENST00000553700.1_Silent_p.T1828T	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1828					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CTTCACGAGTCGTTCCAAGAC	0.403000													43	87					6.2361e-21	8.21824e-21	0.098360	1	0
ZNF638	27332	broad.mit.edu	37	2	71590316	71590316	+	Silent	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr2:71590316G>A	ENST00000409544.1	+	4	2043	c.1413G>A	c.(1411-1413)tcG>tcA	p.S471S	ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000355812.3_Silent_p.S471S|ZNF638_ENST00000377802.2_Silent_p.S471S|ZNF638_ENST00000264447.4_Silent_p.S471S	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	471					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TCCTCCCATCGAGAAGGtaat	0.274000													7	22					0	0	0.029380	0	0
DHX9	1660	broad.mit.edu	37	1	182847304	182847304	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:182847304G>C	ENST00000367549.3	+	20	2457	c.2347G>C	c.(2347-2349)Gag>Cag	p.E783Q	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	783	Helicase C-terminal.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AGCTCGTTTTGAGAGGTAAGA	0.473000													29	52					0	0	0.037714	0	0
UNC5B	219699	broad.mit.edu	37	10	73053603	73053603	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr10:73053603G>T	ENST00000335350.6	+	13	2504	c.2088G>T	c.(2086-2088)caG>caT	p.Q696H	UNC5B_ENST00000373192.4_Missense_Mutation_p.Q685H	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	696					apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						AGCGGCTCCAGCTGGCCGTCT	0.662000													10	37					3.86212e-05	4.114e-05	0.069234	1	0
USP21	27005	broad.mit.edu	37	1	161134865	161134865	+	Silent	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:161134865C>T	ENST00000368002.3	+	13	1916	c.1539C>T	c.(1537-1539)agC>agT	p.S513S	USP21_ENST00000487163.1_3'UTR|USP21_ENST00000289865.8_Silent_p.S513S|USP21_ENST00000368001.1_Silent_p.S499S	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	513					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.S513S(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			ACTCAGGCAGCGTCCACTATG	0.537000													6	103					0	0	0.029380	0	0
SCAF8	22828	broad.mit.edu	37	6	155141314	155141314	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr6:155141314G>T	ENST00000367178.3	+	15	2215	c.1639G>T	c.(1639-1641)Gct>Tct	p.A547S	SCAF8_ENST00000417268.1_Missense_Mutation_p.A547S|SCAF8_ENST00000367186.4_Missense_Mutation_p.A613S	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	547	RRM.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						ACAATAGATCGCTTGGGCTTT	0.299000													12	22					3.07112e-06	3.35767e-06	0.080935	1	0
RPA3	6119	broad.mit.edu	37	7	7680006	7680006	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr7:7680006C>G	ENST00000223129.4	-	5	1215	c.44G>C	c.(43-45)gGc>gCc	p.G15A	RPA3_ENST00000406109.1_Intron|RPA3_ENST00000396682.2_Missense_Mutation_p.G15A	NM_002947.3	NP_002938.1	P35244	RFA3_HUMAN	replication protein A3, 14kDa	15					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	cytoplasm|DNA replication factor A complex|nucleoplasm	protein binding|single-stranded DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.202)		AGCTAGCATGCCGGCGTTGAT	0.582000								Direct reversal of damage;Nucleotide excision repair (NER)					44	101					0	0	0.042209	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530220	80530220	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr2:80530220C>A	ENST00000295057.3	-	2	1381	c.725G>T	c.(724-726)aGg>aTg	p.R242M	CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.R242M	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	242						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CACCTTGTTCCTCCGCAGGCA	0.577000										HNSCC(69;0.2)			17	50					2.94398e-08	3.35477e-08	0.043863	1	0
CPAMD8	27151	broad.mit.edu	37	19	17025618	17025618	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr19:17025618G>A	ENST00000443236.1	-	28	3807	c.3776C>T	c.(3775-3777)aCa>aTa	p.T1259I		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1212						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GACAAAGGCTGtgagcctgaa	0.617000													16	9					0	0	0.028581	0	0
NOTCH3	4854	broad.mit.edu	37	19	15302287	15302287	+	Silent	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr19:15302287G>C	ENST00000263388.2	-	6	1059	c.984C>G	c.(982-984)acC>acG	p.T328T		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	328	EGF-like 8; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GGTCATGGCAGGTGGCCCCAT	0.582000													13	9					0	0	0.105934	0	0
BSND	7809	broad.mit.edu	37	1	55470717	55470717	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:55470717C>A	ENST00000371265.4	+	2	454	c.200C>A	c.(199-201)tCt>tAt	p.S67Y		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	Bartter syndrome, infantile, with sensorineural deafness (Barttin)	67						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						CCTGCTGACTCTGACTTTCAA	0.592000													31	105					1.08052e-11	1.29135e-11	0.069456	1	0
RB1	5925	broad.mit.edu	37	13	49027249	49027249	+	Splice_Site	SNP	T	T	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr13:49027249T>A	ENST00000267163.4	+	18	1952		c.e18+2			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGCAGATATGTAAGCAAAATA	0.338000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			43	28					0	0	0.039052	0	0
MARS2	92935	broad.mit.edu	37	2	198570480	198570480	+	Silent	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr2:198570480C>G	ENST00000282276.6	+	1	394	c.351C>G	c.(349-351)gtC>gtG	p.V117V	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	117					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	GCGACCGAGTCTCTGAGCAGT	0.647000													9	66					0	0	0.047766	0	0
ATP2B4	493	broad.mit.edu	37	1	203680201	203680201	+	Missense_Mutation	SNP	G	G	A	rs138521935	byFrequency	TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:203680201G>A	ENST00000357681.5	+	12	3119	c.1996G>A	c.(1996-1998)Gcg>Acg	p.A666T	ATP2B4_ENST00000367219.3_Missense_Mutation_p.A654T|ATP2B4_ENST00000341360.2_Missense_Mutation_p.A666T|ATP2B4_ENST00000391954.2_Missense_Mutation_p.A666T|ATP2B4_ENST00000367218.3_Missense_Mutation_p.A666T	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	666					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GACCTGTATCGCGGTGGTGGG	0.557000													32	73					0	0	0.050027	0	0
WWC1	23286	broad.mit.edu	37	5	167841442	167841442	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr5:167841442T>C	ENST00000265293.4	+	9	1533	c.1031T>C	c.(1030-1032)aTc>aCc	p.I344T	WWC1_ENST00000521089.1_Missense_Mutation_p.I344T	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	344					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CTGATCCTTATCAACGAGAAG	0.632000													3	3					0	0	0.009096	0	0
OR6K3	391114	broad.mit.edu	37	1	158687120	158687120	+	Missense_Mutation	SNP	G	G	T	rs146136418	by1000genomes	TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:158687120G>T	ENST00000368146.1	-	1	833	c.834C>A	c.(832-834)agC>agA	p.S278R	OR6K3_ENST00000368145.1_Missense_Mutation_p.S262R			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					GATAAGTGTCGCTGAAACGCA	0.453000													53	100					7.34454e-26	9.87209e-26	0.048971	1	0
CSMD2	114784	broad.mit.edu	37	1	34383741	34383741	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:34383741C>T	ENST00000373381.4	-	5	1050	c.874G>A	c.(874-876)Ggt>Agt	p.G292S		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	252	CUB 2.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AAGTCGTAACCATCCTCCAGC	0.527000													48	42					0	0	0.045515	0	0
UBE2E2	7325	broad.mit.edu	37	3	23250261	23250261	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr3:23250261G>A	ENST00000396703.1	+	2	251	c.71G>A	c.(70-72)cGt>cAt	p.R24H	UBE2E2_ENST00000425792.1_Missense_Mutation_p.R24H	NM_152653.3	NP_689866.1	Q96LR5	UB2E2_HUMAN	ubiquitin-conjugating enzyme E2E 2	24					ISG15-protein conjugation|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination	nucleolus	ATP binding|ISG15 ligase activity|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(2)	10						GGAGATCAACGTGAAAGTGTT	0.418000													11	42					0	0	0.080935	0	0
MDN1	23195	broad.mit.edu	37	6	90354758	90354758	+	Silent	SNP	A	A	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr6:90354758A>C	ENST00000369393.3	-	101	16693	c.16578T>G	c.(16576-16578)gtT>gtG	p.V5526V	MDN1_ENST00000428876.1_Silent_p.V5526V			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5526	VWFA.				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)		TGTCCAATACAACAAAGATGA	0.473000													4	79					0	0	0.014758	0	0
TMEM175	84286	broad.mit.edu	37	4	946154	946154	+	Splice_Site	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr4:946154G>A	ENST00000264771.4	+	7	563		c.e7-1		TMEM175_ENST00000515740.1_Splice_Site|TMEM175_ENST00000504180.1_Splice_Site|TMEM175_ENST00000508204.1_Splice_Site	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175							integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TGTTTTAACAGTTTTCGTTAA	0.562000													6	86					0	0	0.029380	0	0
CDK12	51755	broad.mit.edu	37	17	37687195	37687195	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr17:37687195G>A	ENST00000447079.4	+	14	4132	c.4099G>A	c.(4099-4101)Gtc>Atc	p.V1367I	CDK12_ENST00000430627.2_Missense_Mutation_p.V1358I	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1367					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	p.V1367L(1)		NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AGAATCCTTGGTCCAGACCCT	0.537000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			20	55					0	0	0.049695	0	0
IGHV3-20	28445	broad.mit.edu	37	14	106667841	106667841	+	RNA	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr14:106667841C>G	ENST00000390606.2	-	0	152																											CCAGGCCGTACCACACCTCCC	0.577000													39	148					0	0	0.104719	0	0
COCH	1690	broad.mit.edu	37	14	31348048	31348048	+	Silent	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr14:31348048C>A	ENST00000396618.3	+	5	327	c.271C>A	c.(271-273)Cga>Aga	p.R91R	RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000216361.4_Silent_p.R91R|COCH_ENST00000475087.1_Silent_p.R91R|COCH_ENST00000460581.2_5'UTR	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	91	LCCL.				sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		GGGACCTGTACGAGTCTATAG	0.463000													28	56					1.17739e-12	1.43254e-12	0.108266	1	0
IMPA1	3612	broad.mit.edu	37	8	82572881	82572881	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr8:82572881T>A	ENST00000311489.4	-	7	552	c.479A>T	c.(478-480)cAg>cTg	p.Q160L	IMPA1_ENST00000256108.5_Silent_p.A196A|IMPA1_ENST00000449740.2_Silent_p.A255A|IMPA1_ENST00000523710.1_5'UTR	NM_001144879.1	NP_001138351.1	P29218	IMPA1_HUMAN	inositol(myo)-1(or 4)-monophosphatase 1	0					inositol phosphate dephosphorylation|phosphatidylinositol biosynthetic process|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity	p.A196A(1)		NS(1)|cervix(1)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|stomach(1)	18					Lithium(DB01356)	TATTAACAGCTGCTGTTCCAA	0.383000													4	63					0	0	0.014758	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553818	140553818	+	Silent	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr5:140553818C>T	ENST00000231137.3	+	1	1576	c.1402C>T	c.(1402-1404)Ctg>Ttg	p.L468L		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		468	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L468M(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGCCCCGCCCTGCCCATCGG	0.632000													76	67					0	0	0.048971	0	0
GCG	2641	broad.mit.edu	37	2	163003967	163003967	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr2:163003967G>T	ENST00000418842.2	-	3	404	c.150C>A	c.(148-150)gaC>gaA	p.D50E	GCG_ENST00000375497.3_Missense_Mutation_p.D50E	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	50					cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14					Exenatide(DB01276)|Phentolamine(DB00692)	AATGGCGCTTGTCCTCGTTCA	0.483000													42	199					2.47872e-24	3.32346e-24	0.039052	1	0
CTDP1	9150	broad.mit.edu	37	18	77455230	77455230	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr18:77455230T>C	ENST00000299543.7	+	2	467	c.320T>C	c.(319-321)gTt>gCt	p.V107A	CTDP1_ENST00000075430.7_Missense_Mutation_p.V107A	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	107					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		TGTAGAGCGGTTCTGGTGAGG	0.443000													11	44					0	0	0.024245	0	0
FARP1	10160	broad.mit.edu	37	13	99047614	99047614	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr13:99047614G>T	ENST00000376586.2	+	13	1634	c.1298G>T	c.(1297-1299)aGc>aTc	p.S433I	FARP1_ENST00000595437.1_Missense_Mutation_p.S433I|FARP1_ENST00000319562.6_Missense_Mutation_p.S433I			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	433					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CCGAGGAGAAGCCCCGCGGGT	0.687000													16	51					6.94344e-10	8.1359e-10	0.038395	1	0
SHOX2	6474	broad.mit.edu	37	3	157823740	157823740	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr3:157823740T>C	ENST00000389589.4	-	1	209	c.74A>G	c.(73-75)tAc>tGc	p.Y25C	SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000483851.2_Missense_Mutation_p.Y25C|SHOX2_ENST00000425436.3_Missense_Mutation_p.Y25C|RSRC1_ENST00000480820.1_5'UTR|SHOX2_ENST00000441443.2_5'UTR	NM_003030.4	NP_003021.3	O60902	SHOX2_HUMAN	short stature homeobox 2	25					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CACCTCCCGGTACGTGATCGC	0.687000													6	62					0	0	0.029380	0	0
BTN3A1	11119	broad.mit.edu	37	6	26413844	26413844	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr6:26413844C>G	ENST00000289361.6	+	10	1834	c.1466C>G	c.(1465-1467)tCc>tGc	p.S489C	BTN3A1_ENST00000414912.2_Missense_Mutation_p.S437C	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	489	B30.2/SPRY.				lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CTGGACGTCTCCTTCTCTGAG	0.468000													45	69					0	0	0.045515	0	0
EGFL6	25975	broad.mit.edu	37	X	13588024	13588024	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chrX:13588024G>T	ENST00000361306.1	+	1	301	c.44G>T	c.(43-45)tGg>tTg	p.W15L	EGFL6_ENST00000380602.3_Missense_Mutation_p.W15L	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	15					cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						CTGCTCTCCTGGGTGGCAGGT	0.701000													11	9					9.70103e-10	1.13179e-09	0.069234	1	0
REEP1	65055	broad.mit.edu	37	2	86509304	86509304	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr2:86509304T>C	ENST00000165698.5	-	2	237	c.94A>G	c.(94-96)Att>Gtt	p.I32V	REEP1_ENST00000538924.1_Missense_Mutation_p.I39V|REEP1_ENST00000540790.1_5'UTR|REEP1_ENST00000541910.1_Missense_Mutation_p.I32V|REEP1_ENST00000473407.1_5'UTR|REEP1_ENST00000535845.1_Intron	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN	receptor accessory protein 1	32					cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						TATTCCTTAATGTCCTTTGAT	0.443000													59	229					0	0	0.048971	0	0
UNC79	57578	broad.mit.edu	37	14	94083493	94083493	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr14:94083493G>C	ENST00000553484.1	+	29	4287	c.4133G>C	c.(4132-4134)gGa>gCa	p.G1378A	UNC79_ENST00000256339.4_Missense_Mutation_p.G1179A|UNC79_ENST00000393151.2_Missense_Mutation_p.G1356A|UNC79_ENST00000555664.1_Missense_Mutation_p.G1356A			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1356						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ATTAACTTGGGAAAACACCTT	0.413000													8	101					0	0	0.047766	0	0
OR10J3	441911	broad.mit.edu	37	1	159284311	159284311	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:159284311T>C	ENST00000332217.5	-	1	138	c.139A>G	c.(139-141)Atg>Gtg	p.M47V		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					ATAATGGTCATGATAATCACA	0.473000													21	207					0	0	0.055883	0	0
TP53	7157	broad.mit.edu	37	17	7574021	7574021	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr17:7574021C>A	ENST00000269305.4	-	10	1195	c.1006G>T	c.(1006-1008)Gag>Tag	p.E336*	TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000445888.2_Nonsense_Mutation_p.E336*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	336	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.				activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.E336*(5)|p.I332fs*5(1)|p.E336fs*12(1)|p.?(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)		TCGAAGCGCTCACGCCCACGG	0.517000		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)			11	16					1.58986e-06	1.75602e-06	0.069234	1	0
C17orf49	124944	broad.mit.edu	37	17	6918444	6918444	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr17:6918444C>G	ENST00000546495.1	+	2	448	c.85C>G	c.(85-87)Ctg>Gtg	p.L29V	C17orf49_ENST00000546760.1_Missense_Mutation_p.L29V|RP11-589P10.7_ENST00000572547.1_RNA|C17orf49_ENST00000552775.1_Missense_Mutation_p.L3V|C17orf49_ENST00000552402.1_Missense_Mutation_p.L29V|RNASEK-C17orf49_ENST00000607129.1_Missense_Mutation_p.L29V|RNASEK-C17orf49_ENST00000606880.1_Missense_Mutation_p.L29V|C17orf49_ENST00000439424.2_Missense_Mutation_p.L29V			Q8IXM2	BAP18_HUMAN	chromosome 17 open reading frame 49	29					chromatin modification	MLL1 complex|NURF complex	DNA binding			kidney(1)|large_intestine(2)|ovary(1)	4						GACGATGCAGCTGCATCCCGT	0.721000													3	11					0	0	0.009096	0	0
CDH22	64405	broad.mit.edu	37	20	44841810	44841810	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr20:44841810T>A	ENST00000372262.3	-	5	1256	c.856A>T	c.(856-858)Atc>Ttc	p.I286F	CDH22_ENST00000474438.1_5'UTR|CDH22_ENST00000537909.1_Missense_Mutation_p.I286F	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	286	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GACTCCTGGATGCTGAACTGG	0.607000													9	58					0	0	0.058154	0	0
ST6GAL1	6480	broad.mit.edu	37	3	186760866	186760866	+	Silent	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr3:186760866C>G	ENST00000169298.3	+	4	1049	c.375C>G	c.(373-375)tcC>tcG	p.S125S	ST6GAL1_ENST00000448044.1_Silent_p.S125S|ST6GAL1_ENST00000457772.2_Intron	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	125					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		ACAAAGTGTCCTACAAGGGGC	0.502000													11	134					0	0	0.069234	0	0
FKBP10	60681	broad.mit.edu	37	17	39976649	39976649	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr17:39976649C>A	ENST00000321562.4	+	7	1296	c.1192C>A	c.(1192-1194)Ctt>Att	p.L398I	FKBP10_ENST00000544340.1_Missense_Mutation_p.L171I	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	398					protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		GACCACCAAGCTTGGGGACTT	0.572000													14	220					0.00244969	0.00252464	0.020292	1	0
ZNF804A	91752	broad.mit.edu	37	2	185802398	185802398	+	Missense_Mutation	SNP	A	A	T	rs116133259	byFrequency	TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr2:185802398A>T	ENST00000302277.6	+	4	2869	c.2275A>T	c.(2275-2277)Aat>Tat	p.N759Y		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	759						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AAGAGGTTACAATTCTGTCAT	0.338000													14	60					0	0	0.020292	0	0
ZYX	7791	broad.mit.edu	37	7	143085736	143085736	+	Silent	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr7:143085736C>T	ENST00000322764.5	+	7	1644	c.1299C>T	c.(1297-1299)tgC>tgT	p.C433C	ZYX_ENST00000392910.2_Silent_p.C276C|ZYX_ENST00000449423.2_Silent_p.C346C	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	433	LIM zinc-binding 1.				cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					CGCCGTACTGCGAGGGCTGTT	0.657000													14	93					0	0	0.033300	0	0
SLC22A8	9376	broad.mit.edu	37	11	62760801	62760801	+	Silent	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr11:62760801G>T	ENST00000336232.2	-	11	1672	c.1537C>A	c.(1537-1539)Cgg>Agg	p.R513R	SLC22A8_ENST00000545207.1_Silent_p.R422R|SLC22A8_ENST00000430500.2_Silent_p.R513R|SLC22A8_ENST00000535878.1_Silent_p.R390R|SLC22A8_ENST00000311438.8_3'UTR	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	513					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						TTCTTTGCCCGCAGGGACCTA	0.617000													10	36					0.000673444	0.000699396	0.069234	1	0
DPYS	1807	broad.mit.edu	37	8	105393464	105393464	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr8:105393464C>A	ENST00000351513.2	-	9	1654	c.1522G>T	c.(1522-1524)Gat>Tat	p.D508Y	DPYS_ENST00000521601.1_5'UTR	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	508					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GCTGTGGCATCTTCTTTTGTC	0.502000													42	33					2.95478e-19	3.82843e-19	0.104719	1	0
NTM	50863	broad.mit.edu	37	11	132082002	132082002	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr11:132082002C>G	ENST00000374786.1	+	3	966	c.487C>G	c.(487-489)Cca>Gca	p.P163A	NTM_ENST00000374791.3_Missense_Mutation_p.P163A|NTM_ENST00000427481.2_Missense_Mutation_p.P154A|NTM_ENST00000539799.1_Missense_Mutation_p.P163A|NTM_ENST00000374784.1_Missense_Mutation_p.P163A|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000425719.2_Missense_Mutation_p.P163A	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	163	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						AACTGGTAGACCAGAGCCTAC	0.423000													33	28					0	0	0.054565	0	0
OR6F1	343169	broad.mit.edu	37	1	247875476	247875476	+	Silent	SNP	T	T	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:247875476T>G	ENST00000302084.2	-	1	629	c.582A>C	c.(580-582)gcA>gcC	p.A194A	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CAAGCTCTACTGCCTGTGTGT	0.532000													22	152					0	0	0.076483	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53653061	53653061	+	Silent	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr16:53653061G>T	ENST00000262135.4	-	22	3345	c.3252C>A	c.(3250-3252)acC>acA	p.T1084T	RPGRIP1L_ENST00000379925.3_Silent_p.T1164T|RPGRIP1L_ENST00000564374.1_Silent_p.T1118T|RPGRIP1L_ENST00000563746.1_Silent_p.T1130T	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	1164					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TGTCATCCATGGTTACTTGAG	0.398000													24	83					1.85244e-09	2.14724e-09	0.083992	1	0
TMEM132D	121256	broad.mit.edu	37	12	130184785	130184785	+	Silent	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr12:130184785G>T	ENST00000422113.2	-	2	864	c.538C>A	c.(538-540)Cgg>Agg	p.R180R		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	180						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CAGCTGCCCCGCACCTCTCGG	0.687000													19	25					7.45023e-12	8.94359e-12	0.055883	1	0
FUBP1	8880	broad.mit.edu	37	1	78430915	78430915	+	Splice_Site	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:78430915C>G	ENST00000370767.1	-	8	561	c.473_splice	c.e8-1	p.Q158_splice	FUBP1_ENST00000436586.2_Splice_Site_p.Q179_splice|FUBP1_ENST00000370768.2_Splice_Site_p.Q158_splice			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	158	KH 1.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GTTTTGCTGACCTGTTAACAA	0.383000			"""F, N"""		oligodendroglioma								4	106					0	0	0.009096	0	0
COL27A1	85301	broad.mit.edu	37	9	116930943	116930943	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr9:116930943A>T	ENST00000356083.3	+	3	1499	c.1108A>T	c.(1108-1110)Acc>Tcc	p.T370S		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	370	Pro-rich.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						AAGCCTCCCTACCAAGCCTTC	0.557000													52	34					0	0	0.048971	0	0
PTPRF	5792	broad.mit.edu	37	1	44044570	44044570	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:44044570C>T	ENST00000359947.4	+	7	998	c.658C>T	c.(658-660)Cct>Tct	p.P220S	PTPRF_ENST00000372413.3_Missense_Mutation_p.P220S|PTPRF_ENST00000372414.3_Missense_Mutation_p.P220S|PTPRF_ENST00000438120.1_Missense_Mutation_p.P220S	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	220	Ig-like C2-type 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTACTCAGCCCCTGCGAACCT	0.607000													16	90					0	0	0.043863	0	0
SOX5	6660	broad.mit.edu	37	12	23687239	23687239	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr12:23687239A>G	ENST00000546136.1	-	14	2169	c.2167T>C	c.(2167-2169)Tat>Cat	p.Y723H	SOX5_ENST00000381381.2_Missense_Mutation_p.Y615H|SOX5_ENST00000541536.1_Missense_Mutation_p.Y615H|SOX5_ENST00000545921.1_Missense_Mutation_p.Y726H|SOX5_ENST00000309359.1_Missense_Mutation_p.Y723H|SOX5_ENST00000396007.2_Missense_Mutation_p.Y350H|SOX5_ENST00000537393.1_Missense_Mutation_p.Y701H|SOX5_ENST00000451604.2_Missense_Mutation_p.Y736H			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	736					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TACTCATCATAAATTTCTCCA	0.453000													37	98					0	0	0.069456	0	0
COL11A2	1302	broad.mit.edu	37	6	33144983	33144983	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr6:33144983C>A	ENST00000341947.2	-	24	2218	c.1991G>T	c.(1990-1992)gGt>gTt	p.G664V	COL11A2_ENST00000374712.1_Missense_Mutation_p.G583V|COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000357486.1_Missense_Mutation_p.G643V|COL11A2_ENST00000374708.4_Missense_Mutation_p.G578V|COL11A2_ENST00000361917.1_Missense_Mutation_p.G557V|COL11A2_ENST00000374714.1_Missense_Mutation_p.G638V|COL11A2_ENST00000374713.1_Missense_Mutation_p.G617V|COL11A2_ENST00000395197.1_Missense_Mutation_p.G604V	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	664	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GCCGATGGCACCCTGGGGCCC	0.552000													9	38					0.000442599	0.000463225	0.058154	1	0
DNAH7	56171	broad.mit.edu	37	2	196786861	196786861	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr2:196786861C>G	ENST00000312428.6	-	24	3986	c.3886G>C	c.(3886-3888)Ggt>Cgt	p.G1296R		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1296	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GGGGAATTACCCAGATATTCA	0.328000													16	16					0	0	0.028581	0	0
WRAP53	55135	broad.mit.edu	37	17	7606311	7606311	+	Splice_Site	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr17:7606311G>C	ENST00000316024.5	+	9	3617	c.1268_splice	c.e9-1	p.P423_splice	WRAP53_ENST00000457584.2_Splice_Site_p.P423_splice|WRAP53_ENST00000431639.2_Splice_Site_p.P423_splice|WRAP53_ENST00000534050.1_Splice_Site_p.P390_splice|WRAP53_ENST00000396463.2_Splice_Site_p.P423_splice			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	423					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						TCTCTCGCAGGACCGGGCAGT	0.642000													4	45					0	0	0.009096	0	0
IPO5	3843	broad.mit.edu	37	13	98645422	98645422	+	Missense_Mutation	SNP	C	C	G	rs1053814		TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr13:98645422C>G	ENST00000261574.5	+	11	1090	c.910C>G	c.(910-912)Ctc>Gtc	p.L304V	IPO5_ENST00000539640.1_Missense_Mutation_p.L161V|IPO5_ENST00000490680.1_Missense_Mutation_p.L286V	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	286					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GATCGTCACCCTCTCTGAGAC	0.388000													5	65					0	0	0.029380	0	0
SLC22A13	9390	broad.mit.edu	37	3	38317787	38317787	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr3:38317787T>A	ENST00000311856.4	+	8	1296	c.1247T>A	c.(1246-1248)gTg>gAg	p.V416E	SLC22A13_ENST00000450935.2_3'UTR	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	416						integral to plasma membrane	organic cation transmembrane transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		GATCTGCCCGTGGTGGTCACC	0.627000													3	40					0	0	0.009096	0	0
KIF20B	9585	broad.mit.edu	37	10	91478615	91478615	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr10:91478615G>A	ENST00000416354.1	+	12	1492	c.1420G>A	c.(1420-1422)Gcc>Acc	p.A474T	KIF20B_ENST00000394289.2_Missense_Mutation_p.A474T|KIF20B_ENST00000260753.4_Missense_Mutation_p.A474T|KIF20B_ENST00000371728.3_Missense_Mutation_p.A474T			Q96Q89	KI20B_HUMAN	kinesin family member 20B	474					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GAAGTTCTCCGCCATTGCACA	0.254000													9	30					0	0	0.047766	0	0
FAM83C	128876	broad.mit.edu	37	20	33874536	33874536	+	Silent	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr20:33874536G>T	ENST00000374408.3	-	4	2142	c.2046C>A	c.(2044-2046)ctC>ctA	p.L682L		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	682										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			ACTTGGTGATGAGGTCCAGCT	0.612000													6	80					3.59834e-05	3.8406e-05	0.021553	1	0
COL1A1	1277	broad.mit.edu	37	17	48271957	48271957	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr17:48271957C>T	ENST00000225964.5	-	22	1610	c.1492G>A	c.(1492-1494)Gca>Aca	p.A498T		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	498	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	ACACCATCTGCGCCAGGGAAA	0.647000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						5	3					0	0	0.014758	0	0
XIRP1	165904	broad.mit.edu	37	3	39230333	39230333	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr3:39230333G>T	ENST00000340369.3	-	2	832	c.604C>A	c.(604-606)Cgc>Agc	p.R202S	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.R202S	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	202							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GAGCCCAGGCGGTCCAGCGGC	0.622000													41	15					7.63091e-17	9.72355e-17	0.098360	1	0
PALB2	79728	broad.mit.edu	37	16	23652474	23652474	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr16:23652474T>C	ENST00000261584.4	-	1	157	c.5A>G	c.(4-6)gAc>gGc	p.D2G		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	2	Interaction with BRCA1.|Interaction with RAD51.|Required for its oligomerization and is important for its focal concentration at DNA damage sites.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		GGGAGGCTCGTCCATCGGGCA	0.697000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					4	13					0	0	0.014758	0	0
OR4C13	283092	broad.mit.edu	37	11	49974019	49974019	+	Silent	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr11:49974019T>C	ENST00000555099.1	+	1	77	c.45T>C	c.(43-45)ctT>ctC	p.L15L		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TATTGGGGCTTACAGAGAATC	0.328000													11	120					0	0	0.069234	0	0
OR51F1	256892	broad.mit.edu	37	11	4790412	4790412	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr11:4790412G>T	ENST00000380383.1	-	1	756	c.757C>A	c.(757-759)Cat>Aat	p.H253N	MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.H246N|MMP26_ENST00000477339.1_Intron			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	246						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		GCTCCCACATGGGAGACACAG	0.493000													5	93					0.00116845	0.00121114	0.021553	1	0
BAI3	577	broad.mit.edu	37	6	69348701	69348701	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr6:69348701G>T	ENST00000370598.1	+	3	955	c.134G>T	c.(133-135)aGt>aTt	p.S45I		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	45	CUB.				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)				TATTCTGTAAGTGAAATGTTT	0.378000													31	41					1.16021e-09	1.35065e-09	0.034045	1	0
SCN7A	6332	broad.mit.edu	37	2	167284299	167284299	+	Splice_Site	SNP	A	A	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr2:167284299A>T	ENST00000409855.1	-	17	2978	c.2853_splice	c.e17+1	p.L951_splice		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	951					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CCCACTTACCAGAGTGCCAGT	0.413000													12	12					0	0	0.093190	0	0
OR5T1	390155	broad.mit.edu	37	11	56044051	56044051	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr11:56044051A>T	ENST00000313033.2	+	1	1023	c.937A>T	c.(937-939)Atc>Ttc	p.I313F		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	313					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					AAAGGAGGCAATCAAAAGATT	0.343000													49	56					0	0	0.048971	0	0
NOL6	65083	broad.mit.edu	37	9	33472115	33472115	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr9:33472115C>A	ENST00000379471.2	-	3	352	c.265G>T	c.(265-267)Gag>Tag	p.E89*	NOL6_ENST00000455041.2_Nonsense_Mutation_p.E89*|NOL6_ENST00000464829.1_5'UTR			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	89					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		AGTAGCTCCTCTACCTGTAAG	0.517000													34	80					2.20474e-14	2.75082e-14	0.064281	1	0
FCN1	2219	broad.mit.edu	37	9	137809690	137809690	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr9:137809690G>A	ENST00000371806.3	-	1	119	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	10					opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		GCGAGCCCCCGGGCCATGGTG	0.592000													3	51					0	0	0.009096	0	0
KRTAP10-9	386676	broad.mit.edu	37	21	46047672	46047672	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr21:46047672C>A	ENST00000397911.3	+	1	633	c.584C>A	c.(583-585)cCc>cAc	p.P195H	KRTAP10-9_ENST00000484861.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	195	25 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						TGCTGCAAACCCATCTGCTGT	0.617000													188	213					2.78517e-91	3.95055e-91	0.048971	1	0
ASXL1	171023	broad.mit.edu	37	20	31024776	31024776	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr20:31024776C>T	ENST00000375687.4	+	13	4685	c.4261C>T	c.(4261-4263)Ctc>Ttc	p.L1421F	ASXL1_ENST00000306058.5_Missense_Mutation_p.L1416F	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	1421					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AGGGAAGGGGCTCAGTGAGCC	0.537000			"""F, N, Mis"""		"""MDS, CMML"""								48	128					0	0	0.048971	0	0
NLRP5	126206	broad.mit.edu	37	19	56539602	56539602	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr19:56539602G>T	ENST00000390649.3	+	7	2003	c.2003G>T	c.(2002-2004)tGg>tTg	p.W668L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	668						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTTCTGCACTGGGTCTCTCTG	0.577000													38	79					9.62906e-15	1.20699e-14	0.086207	1	0
FAM105B	90268	broad.mit.edu	37	5	14681619	14681619	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr5:14681619G>T	ENST00000284274.4	+	4	449	c.371G>T	c.(370-372)cGt>cTt	p.R124L		NM_138348.4	NP_612357.4	Q96BN8	F105B_HUMAN	family with sequence similarity 105, member B	124										breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					CGGCGAGTCCGTGGTGATAAT	0.542000													58	103					9.53978e-28	1.2952e-27	0.048971	1	0
C7orf55-LUC7L2	100996928	broad.mit.edu	37	7	139060838	139060838	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr7:139060838G>T	ENST00000354926.4	+	2	446	c.92G>T	c.(91-93)aGt>aTt	p.S31I	C7orf55-LUC7L2_ENST00000541170.3_Missense_Mutation_p.S28I|C7orf55-LUC7L2_ENST00000263545.6_Missense_Mutation_p.S30I|LUC7L2_ENST00000541515.3_Missense_Mutation_p.S97I	NM_016019.3	NP_057103.2																					ATCAAATTCAGTGATGACAGA	0.353000													11	88					1.49906e-05	1.61276e-05	0.020292	1	0
FRG2	448831	broad.mit.edu	37	4	190947540	190947540	+	Splice_Site	SNP	T	T	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr4:190947540T>G	ENST00000504750.1	-	3	382	c.334_splice	c.e3+1	p.A111_splice	FRG2_ENST00000378763.1_Splice_Site_p.A110_splice			Q64ET8	FRG2_HUMAN	FSHD region gene 2	110						nucleus				large_intestine(1)|lung(3)|ovary(2)|skin(1)	7		all_cancers(14;1.01e-50)|all_epithelial(14;6.7e-35)|all_lung(41;2.17e-14)|Lung NSC(41;4.95e-14)|Breast(6;3.4e-05)|Melanoma(20;0.000539)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|all_hematologic(60;0.0489)|Prostate(90;0.0513)		all cancers(3;3.83e-31)|Epithelial(3;1.36e-30)|OV - Ovarian serous cystadenocarcinoma(60;1.99e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00831)|READ - Rectum adenocarcinoma(43;0.155)		AGATTCTACCTGCTGTGTCTT	0.433000													37	28					0	0	0.045515	0	0
CUBN	8029	broad.mit.edu	37	10	16989299	16989299	+	Silent	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr10:16989299G>A	ENST00000377833.4	-	36	5342	c.5277C>T	c.(5275-5277)ccC>ccT	p.P1759P		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1759	CUB 12.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCACATTAGGGGGATAAATGT	0.443000													12	34					0	0	0.093190	0	0
TAF4B	6875	broad.mit.edu	37	18	23895283	23895283	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr18:23895283G>C	ENST00000269142.5	+	10	2921	c.1923G>C	c.(1921-1923)ttG>ttC	p.L641F	TAF4B_ENST00000578121.1_Missense_Mutation_p.L646F	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	641					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			ACTCTGAATTGGTTGGCACAC	0.358000													3	49					0	0	0.009096	0	0
IFT46	56912	broad.mit.edu	37	11	118422957	118422957	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr11:118422957T>C	ENST00000264020.2	-	9	1107	c.730A>G	c.(730-732)Aag>Gag	p.K244E	IFT46_ENST00000530872.1_Missense_Mutation_p.K244E|IFT46_ENST00000264021.3_Missense_Mutation_p.K193E	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46 homolog (Chlamydomonas)	193					flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						GCAGGGGGCTTAGAACGGTGT	0.433000													67	102					0	0	0.048971	0	0
MYH2	4620	broad.mit.edu	37	17	10442569	10442569	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr17:10442569G>T	ENST00000245503.5	-	14	1753	c.1369C>A	c.(1369-1371)Cag>Aag	p.Q457K	MYH2_ENST00000397183.2_Missense_Mutation_p.Q457K|MYH2_ENST00000532183.1_Missense_Mutation_p.Q457K|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	457	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ATGAAGTACTGCCTGGGCTGC	0.493000													42	121					4.32679e-17	5.5264e-17	0.092188	1	0
AKNAD1	254268	broad.mit.edu	37	1	109394807	109394807	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:109394807C>A	ENST00000370001.3	-	2	748	c.480G>T	c.(478-480)tgG>tgT	p.W160C	AKNAD1_ENST00000369995.3_Missense_Mutation_p.W160C|AKNAD1_ENST00000357393.4_Intron|AKNAD1_ENST00000369994.1_Missense_Mutation_p.W160C	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	160										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						GTTCTTTTGGCCAAGAATTCT	0.403000													25	70					4.26978e-12	5.13708e-12	0.083992	1	0
ZNF135	7694	broad.mit.edu	37	19	58578995	58578995	+	Silent	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr19:58578995C>T	ENST00000506786.1	+	5	1571	c.1017C>T	c.(1015-1017)ccC>ccT	p.P339P	ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000313434.5_Silent_p.P381P|ZNF135_ENST00000511556.1_Silent_p.P393P|ZNF135_ENST00000439855.2_Silent_p.P381P|ZNF135_ENST00000401053.4_Silent_p.P405P			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	393					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		GGGAGAAGCCCTACGAGTGCC	0.542000													20	66					0	0	0.049695	0	0
CAMTA1	23261	broad.mit.edu	37	1	7309632	7309632	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:7309632A>T	ENST00000303635.7	+	5	591	c.384A>T	c.(382-384)aaA>aaT	p.K128N	CAMTA1_ENST00000439411.2_Missense_Mutation_p.K128N	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		AAAAGAGGAAAGATGGGAAAA	0.438000			T	WWTR1	epitheliod hemangioendothelioma								3	40					0	0	0.004672	0	0
MCU	90550	broad.mit.edu	37	10	74631209	74631209	+	Silent	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr10:74631209C>G	ENST00000536019.1	+	6	1030	c.585C>G	c.(583-585)gcC>gcG	p.A195A	MCU_ENST00000373053.3_Silent_p.A244A|MCU_ENST00000357157.6_Silent_p.A223A|MCU_ENST00000605416.1_3'UTR	NM_001270680.1	NP_001257609.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	244					elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						CCTACATGGCCACACAGTTTG	0.483000													76	280					0	0	0.048971	0	0
CSMD2	114784	broad.mit.edu	37	1	34554594	34554594	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:34554594C>G	ENST00000373381.4	-	2	564	c.388G>C	c.(388-390)Gag>Cag	p.E130Q		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	90	CUB 1.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CGCAGATTCTCTGGCTGGGGT	0.537000													7	89					0	0	0.038147	0	0
OR5T1	390155	broad.mit.edu	37	11	56044049	56044049	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr11:56044049C>T	ENST00000313033.2	+	1	1021	c.935C>T	c.(934-936)gCa>gTa	p.A312V		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					GTAAAGGAGGCAATCAAAAGA	0.338000													51	59					0	0	0.048971	0	0
TLE4	7091	broad.mit.edu	37	9	82333861	82333861	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr9:82333861G>C	ENST00000376520.4	+	16	2489	c.1661G>C	c.(1660-1662)aGt>aCt	p.S554T	TLE4_ENST00000376537.4_Missense_Mutation_p.S554T|TLE4_ENST00000376552.2_Missense_Mutation_p.S522T|TLE4_ENST00000376544.3_Missense_Mutation_p.S453T|TLE4_ENST00000265284.6_Missense_Mutation_p.S497T|TLE4_ENST00000376534.4_Missense_Mutation_p.S159T			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GGCAATAAGAGTCCTGTCTCC	0.537000													10	36					0	0	0.093190	0	0
CCL7	6354	broad.mit.edu	37	17	32598250	32598250	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr17:32598250C>G	ENST00000394627.1	+	2	282	c.215C>G	c.(214-216)cCa>cGa	p.P72R	CCL7_ENST00000200307.4_Silent_p.T64T|CCL7_ENST00000378569.2_Silent_p.T54T|CCL7_ENST00000394630.3_Intron			P80098	CCL7_HUMAN	chemokine (C-C motif) ligand 7	0					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		ACAGAAGGACCACCAGTAGCC	0.493000													29	32					0	0	0.034045	0	0
IGSF10	285313	broad.mit.edu	37	3	151164972	151164972	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr3:151164972C>A	ENST00000282466.3	-	4	2796	c.2797G>T	c.(2797-2799)Gtc>Ttc	p.V933F		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	933					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGCATTTTGACATTGACATCT	0.403000													96	335					3.45148e-53	4.87002e-53	0.048971	1	0
OR6T1	219874	broad.mit.edu	37	11	123813703	123813703	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr11:123813703G>C	ENST00000321252.2	-	1	877	c.843C>G	c.(841-843)atC>atG	p.I281M		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		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;0.0401)		AGAGGGGTGTGATGATGCAGC	0.517000													8	235					0	0	0.038147	0	0
PGBD2	267002	broad.mit.edu	37	1	249211642	249211642	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:249211642G>C	ENST00000355360.4	+	3	376	c.106G>C	c.(106-108)Ggg>Cgg	p.G36R	PGBD2_ENST00000539153.1_Missense_Mutation_p.G284R|PGBD2_ENST00000329291.5_Missense_Mutation_p.G287R	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	287								p.G287W(1)|p.G36W(1)		NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GCTGCACAGGGGGAAGCCTGT	0.547000													8	202					0	0	0.047766	0	0
EEPD1	80820	broad.mit.edu	37	7	36338681	36338681	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr7:36338681G>T	ENST00000242108.4	+	8	2294	c.1576G>T	c.(1576-1578)Ggg>Tgg	p.G526W	EEPD1_ENST00000534978.1_Missense_Mutation_p.G526W	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	526					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						GTCTTGGGGCGGGGTGGCTTC	0.587000													44	50					7.05121e-23	9.38421e-23	0.039052	1	0
ANXA11	311	broad.mit.edu	37	10	81926673	81926673	+	Silent	SNP	T	T	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr10:81926673T>A	ENST00000438331.1	-	8	1199	c.717A>T	c.(715-717)ctA>ctT	p.L239L	ANXA11_ENST00000265447.4_Silent_p.L239L|ANXA11_ENST00000535999.1_Silent_p.L239L|ANXA11_ENST00000360615.4_Silent_p.L239L|ANXA11_ENST00000372231.3_Silent_p.L239L|ANXA11_ENST00000422982.3_Silent_p.L239L|ANXA11_ENST00000537102.1_Silent_p.L206L	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	239					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			TGAAGGAAAGTAGGATCTGCT	0.647000													5	5					0	0	0.014758	0	0
PEG3	5178	broad.mit.edu	37	19	57325232	57325232	+	Silent	SNP	A	A	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr19:57325232A>C	ENST00000326441.9	-	10	4941	c.4578T>G	c.(4576-4578)acT>acG	p.T1526T	PEG3_ENST00000593695.1_Silent_p.T1400T|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Silent_p.T1526T|PEG3_ENST00000598410.1_Silent_p.T1402T|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1526					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)		TGCTGGCATGAGTTTTCAGGT	0.483000													58	115					0	0	0.048971	0	0
PLG	5340	broad.mit.edu	37	6	161160114	161160114	+	Nonsense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr6:161160114C>G	ENST00000308192.9	+	16	1955	c.1892C>G	c.(1891-1893)tCa>tGa	p.S631*		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	631	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CCAAGGCCTTCATCCTACAAG	0.498000													30	97					0	0	0.050027	0	0
SMARCA5	8467	broad.mit.edu	37	4	144438520	144438520	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr4:144438520G>C	ENST00000283131.3	+	2	652	c.190G>C	c.(190-192)Gat>Cat	p.D64H		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	64					CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					AATATTTGATGATGCGTCACC	0.328000													4	17					0	0	0.009096	0	0
MMD2	221938	broad.mit.edu	37	7	4949550	4949550	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr7:4949550C>G	ENST00000404774.3	-	6	765	c.571G>C	c.(571-573)Gta>Cta	p.V191L	MMD2_ENST00000401401.3_Missense_Mutation_p.V167L|MMD2_ENST00000406755.1_Missense_Mutation_p.V167L	NM_001100600.1	NP_001094070.1	Q8IY49	PAQRA_HUMAN	monocyte to macrophage differentiation-associated 2	191						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		AAGCCCATTACGACGTAGCAG	0.577000													21	32					0	0	0.055883	0	0
KIF19	124602	broad.mit.edu	37	17	72348457	72348457	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr17:72348457A>T	ENST00000389916.4	+	14	2096	c.1958A>T	c.(1957-1959)cAa>cTa	p.Q653L		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	653					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						ATCATGGACCAAGTGGCCTCC	0.662000													10	14					0	0	0.069234	0	0
PCGF3	10336	broad.mit.edu	37	4	758808	758808	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr4:758808G>C	ENST00000362003.5	+	10	1032	c.637G>C	c.(637-639)Gac>Cac	p.D213H	PCGF3_ENST00000521023.2_Missense_Mutation_p.D179H|PCGF3_ENST00000505655.2_Missense_Mutation_p.D213H|RP11-440L14.1_ENST00000503571.1_RNA|AC139887.4_ENST00000454037.1_RNA|PCGF3_ENST00000470161.2_Missense_Mutation_p.D213H	NM_006315.4	NP_006306.2	Q3KNV8	PCGF3_HUMAN	polycomb group ring finger 3	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(1)	7						CCTGGGCAAGGACCACACACT	0.502000													3	29					0	0	0.009096	0	0
ATP2B4	493	broad.mit.edu	37	1	203652500	203652500	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:203652500G>A	ENST00000357681.5	+	2	1290	c.167G>A	c.(166-168)aGt>aAt	p.S56N	ATP2B4_ENST00000367219.3_Missense_Mutation_p.S56N|ATP2B4_ENST00000341360.2_Missense_Mutation_p.S56N|ATP2B4_ENST00000391954.2_Missense_Mutation_p.S56N|ATP2B4_ENST00000367218.3_Missense_Mutation_p.S56N	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	56					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AATCTCTGCAGTAGACTGAAA	0.488000													56	93					0	0	0.048971	0	0
BSN	8927	broad.mit.edu	37	3	49693067	49693067	+	Silent	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr3:49693067C>T	ENST00000296452.4	+	5	6192	c.6078C>T	c.(6076-6078)ggC>ggT	p.G2026G		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2026					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		ACAGCCTGGGCTTTGCGGATG	0.607000													9	183					0	0	0.080935	0	0
MBP	4155	broad.mit.edu	37	18	74696830	74696830	+	Silent	SNP	T	T	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr18:74696830T>A	ENST00000355994.2	-	8	1034	c.771A>T	c.(769-771)ccA>ccT	p.P257P	MBP_ENST00000579129.1_Intron|MBP_ENST00000397869.3_Silent_p.P189P|MBP_ENST00000528160.1_Intron|MBP_ENST00000382582.3_Silent_p.P150P|MBP_ENST00000359645.3_Silent_p.P139P|MBP_ENST00000527041.1_Intron|MBP_ENST00000397875.3_Silent_p.P134P|MBP_ENST00000354542.4_Intron|MBP_ENST00000580402.1_Silent_p.P257P|MBP_ENST00000397865.5_Silent_p.P113P|MBP_ENST00000526111.1_Silent_p.P102P|MBP_ENST00000397866.4_Silent_p.P124P|MBP_ENST00000578193.1_Silent_p.P124P	NM_001025101.1	NP_001020272.1	P02686	MBP_HUMAN	myelin basic protein	257					central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)		AGCCAAATCCTGGTCTCTGGC	0.597000													21	51					0	0	0.069288	0	0
NT5C1A	84618	broad.mit.edu	37	1	40124879	40124879	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:40124879C>A	ENST00000235628.1	-	6	1020	c.1021G>T	c.(1021-1023)Ggc>Tgc	p.G341C		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	341					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GCCACAGTGCCCATCTCCTGA	0.607000													35	156					8.4185e-14	1.04552e-13	0.050027	1	0
OTUD7A	161725	broad.mit.edu	37	15	31862369	31862369	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr15:31862369G>T	ENST00000382902.1	-	2	275	c.183C>A	c.(181-183)agC>agA	p.S61R	OTUD7A_ENST00000307050.4_Missense_Mutation_p.S61R			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	61						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GCTCATAGTCGCTCAGAGCGG	0.552000													42	27					2.68985e-26	3.62457e-26	0.048971	1	0
PPAPDC3	84814	broad.mit.edu	37	9	134165461	134165461	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr9:134165461A>T	ENST00000372264.3	+	1	381	c.77A>T	c.(76-78)aAc>aTc	p.N26I	PPAPDC3_ENST00000372261.1_Missense_Mutation_p.N26I	NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3	26						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		CTGTCCCTGAACCAGCCCCCC	0.706000													15	4					0	0	0.038395	0	0
PLCE1	51196	broad.mit.edu	37	10	95791470	95791470	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr10:95791470G>C	ENST00000260766.3	+	2	1301	c.667G>C	c.(667-669)Gag>Cag	p.E223Q	PLCE1_ENST00000371380.2_Missense_Mutation_p.E223Q	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	223					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ACCTGGGGGTGAGGAGAAGCA	0.378000													12	42					0	0	0.080935	0	0
ZNF174	7727	broad.mit.edu	37	16	3454445	3454445	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr16:3454445G>T	ENST00000268655.4	+	2	1007	c.422G>T	c.(421-423)gGg>gTg	p.G141V	ZNF174_ENST00000575752.1_Missense_Mutation_p.G141V|ZNF174_ENST00000344823.5_Missense_Mutation_p.G141V|ZNF174_ENST00000572544.1_Missense_Mutation_p.G141V|LA16c-306E5.2_ENST00000575785.1_RNA|ZNF174_ENST00000571936.1_Missense_Mutation_p.G141V	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	141					negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.G141E(1)		endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						TGTATGCAGGGGCAAAAGGTG	0.498000													59	46					1.45723e-30	1.99859e-30	0.048971	1	0
LILRP2	79166	broad.mit.edu	37	19	55220440	55220440	+	RNA	SNP	A	A	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr19:55220440A>G	ENST00000413439.1	+	0	578																											ATTACCTGGGAGAGCCCCATG	0.617000													3	20					0	0	0.004672	0	0
ABCC8	6833	broad.mit.edu	37	11	17483148	17483148	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr11:17483148C>A	ENST00000302539.4	-	5	929	c.804G>T	c.(802-804)gaG>gaT	p.E268D	ABCC8_ENST00000389817.3_Missense_Mutation_p.E268D	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	268					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CGTCAAAGGCCTCGCAGAGCC	0.587000													5	70					0.000602214	0.000627841	0.014758	1	0
NBAS	51594	broad.mit.edu	37	2	15607504	15607504	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr2:15607504G>C	ENST00000281513.5	-	19	2071	c.2046C>G	c.(2044-2046)tgC>tgG	p.C682W	NBAS_ENST00000441750.1_Missense_Mutation_p.C682W	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	682										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GTCTACAACGGCAAAGTTCCT	0.318000													3	53					0	0	0.004672	0	0
TRPS1	7227	broad.mit.edu	37	8	116616446	116616446	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr8:116616446G>T	ENST00000395715.3	-	4	2327	c.1750C>A	c.(1750-1752)Ctt>Att	p.L584I	TRPS1_ENST00000520276.1_Missense_Mutation_p.L575I|TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000220888.5_Missense_Mutation_p.L571I|TRPS1_ENST00000519674.1_Missense_Mutation_p.L571I	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	571					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GGGCTGCAAAGTCCTCTGGGA	0.443000									Langer-Giedion syndrome				13	46					7.03913e-09	8.08974e-09	0.093190	1	0
NSUN4	387338	broad.mit.edu	37	1	46810744	46810744	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:46810744C>G	ENST00000474844.1	+	2	1015	c.365C>G	c.(364-366)tCc>tGc	p.S122C	NSUN4_ENST00000536062.1_Missense_Mutation_p.S73C|NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000537428.1_Missense_Mutation_p.S73C	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	122							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					TCCCCTGCCTCCTGGGCCTGC	0.577000													37	278					0	0	0.074837	0	0
KRT6A	3853	broad.mit.edu	37	12	52881659	52881659	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr12:52881659T>A	ENST00000330722.6	-	9	1608	c.1540A>T	c.(1540-1542)Agc>Tgc	p.S514C		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	514	Tail.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		TAGGAGTAGCTGCTTCCTCCA	0.622000													29	84					0	0	0.108266	0	0
FBXO33	254170	broad.mit.edu	37	14	39868928	39868928	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr14:39868928A>G	ENST00000298097.7	-	4	1797	c.1460T>C	c.(1459-1461)gTg>gCg	p.V487A	FBXO33_ENST00000554190.1_3'UTR	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	F-box protein 33	487										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		GACTTCAAGCACTTTCAGATC	0.463000													15	31					0	0	0.028581	0	0
SLC24A3	57419	broad.mit.edu	37	20	19193609	19193609	+	Silent	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr20:19193609G>T	ENST00000328041.6	+	1	320	c.123G>T	c.(121-123)tcG>tcT	p.S41S	RP11-97N19.2_ENST00000446849.1_RNA	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	41						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGTCGCTGTCGAGCCTGCGAG	0.766000													12	7					2.23348e-06	2.44685e-06	0.028581	1	0
PCLO	27445	broad.mit.edu	37	7	82453617	82453617	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr7:82453617T>C	ENST00000423517.2	-	19	14868	c.14531A>G	c.(14530-14532)cAg>cGg	p.Q4844R	PCLO_ENST00000333891.8_Missense_Mutation_p.Q4844R|PCLO_ENST00000426442.2_5'UTR	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4706					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGGGGACTGCTGGCTGCTCTG	0.428000													18	22					0	0	0.033300	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763963	77763963	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr8:77763963C>A	ENST00000521891.2	+	10	5254	c.4806C>A	c.(4804-4806)taC>taA	p.Y1602*	ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.Y1557*|ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.Y1557*|ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.Y1576*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1557						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATGTTGCATACAGCCAAAGCT	0.502000										HNSCC(33;0.089)			19	25					9.7654e-05	0.000103207	0.043863	1	0
CCL11	6356	broad.mit.edu	37	17	32612886	32612886	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr17:32612886A>T	ENST00000305869.3	+	1	200	c.59A>T	c.(58-60)cAg>cTg	p.Q20L		NM_002986.2	NP_002977.1	P51671	CCL11_HUMAN	chemokine (C-C motif) ligand 11	20					cell adhesion|cellular calcium ion homeostasis|immune response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|protein phosphorylation|response to radiation|response to virus|signal transduction	extracellular space	chemokine activity			breast(1)|lung(1)|prostate(1)	3	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		TTCAGCCCCCAGGGGCTCGCT	0.567000													7	161					0	0	0.038147	0	0
GART	2618	broad.mit.edu	37	21	34892683	34892683	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr21:34892683A>C	ENST00000381831.3	-	14	1953	c.1690T>G	c.(1690-1692)Tgt>Ggt	p.C564G	GART_ENST00000381839.3_Missense_Mutation_p.C564G|GART_ENST00000381815.4_Missense_Mutation_p.C564G|GART_ENST00000543717.1_Missense_Mutation_p.C116G	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	564	AIRS.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	AGGAGAGCACATCCAGCTTTT	0.398000													13	69					0	0	0.020292	0	0
BRCA2	675	broad.mit.edu	37	13	32915220	32915220	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr13:32915220C>G	ENST00000544455.1	+	11	6955	c.6728C>G	c.(6727-6729)tCt>tGt	p.S2243C	BRCA2_ENST00000380152.3_Missense_Mutation_p.S2243C	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2243					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	p.S2243Y(2)|p.S2243C(1)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CTGACAGATTCTAAACTGCCA	0.363000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			10	201					0	0	0.080935	0	0
PSEN1	5663	broad.mit.edu	37	14	73637658	73637658	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr14:73637658C>T	ENST00000324501.5	+	4	513	c.241C>T	c.(241-243)Cat>Tat	p.H81Y	PSEN1_ENST00000344094.3_Missense_Mutation_p.H81Y|PSEN1_ENST00000394164.1_Missense_Mutation_p.H77Y|PSEN1_ENST00000357710.4_Missense_Mutation_p.H77Y|PSEN1_ENST00000394157.3_Missense_Mutation_p.H81Y|PSEN1_ENST00000261970.3_Missense_Mutation_p.H81Y|PSEN1_ENST00000557511.1_Missense_Mutation_p.H81Y|PSEN1_ENST00000406768.1_5'UTR	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	81					amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		TGGCGCCAAGCATGTGATCAT	0.512000													4	55					0	0	0.014758	0	0
EML3	256364	broad.mit.edu	37	11	62371621	62371621	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr11:62371621C>T	ENST00000394773.2	-	17	2342	c.2035G>A	c.(2035-2037)Ggc>Agc	p.G679S	EML3_ENST00000531557.1_Missense_Mutation_p.G462S|EML3_ENST00000529309.1_Missense_Mutation_p.G679S|EML3_ENST00000278845.4_Missense_Mutation_p.G680S|EML3_ENST00000494176.2_Missense_Mutation_p.G651S	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	679						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TGCTCATTGCCATCAATGACA	0.562000													4	67					0	0	0.009096	0	0
GALNT11	63917	broad.mit.edu	37	7	151818734	151818734	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr7:151818734C>G	ENST00000434507.1	+	14	2236	c.1799C>G	c.(1798-1800)tCt>tGt	p.S600C	RP5-981O7.2_ENST00000424630.1_RNA|GALNT11_ENST00000452146.2_Missense_Mutation_p.S519C|GALNT11_ENST00000320311.2_Missense_Mutation_p.S600C|GALNT11_ENST00000430044.2_Missense_Mutation_p.S600C			Q8NCW6	GLT11_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)	600	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		GATGGCTCCTCTTCACAGCAG	0.562000													8	115					0	0	0.038147	0	0
SGPP1	81537	broad.mit.edu	37	14	64193979	64193979	+	Splice_Site	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr14:64193979C>A	ENST00000247225.6	-	1	778	c.684_splice	c.e1+1	p.Q228_splice		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	228						endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		GGAACCCTACCTGCCAGCGGC	0.532000													5	60					0.000602214	0.000627841	0.014758	1	0
A2ML1	144568	broad.mit.edu	37	12	8975819	8975819	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr12:8975819C>T	ENST00000299698.7	+	2	284	c.104C>T	c.(103-105)tCc>tTc	p.S35F	A2ML1-AS1_ENST00000537288.1_RNA	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	0						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						AATTTCCCCTCCGTTCAGAAG	0.448000													36	55					0	0	0.059317	0	0
KRTAP5-10	387273	broad.mit.edu	37	11	71276797	71276797	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr11:71276797G>C	ENST00000398531.1	+	1	189	c.164G>C	c.(163-165)tGt>tCt	p.C55S	KRTAP5-10_ENST00000376536.4_Missense_Mutation_p.C55S	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	55	7 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GTGTGCTGCTGTGTGCCAGCC	0.682000													36	254					0	0	0.048971	0	0
OR8B12	219858	broad.mit.edu	37	11	124413490	124413490	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr11:124413490C>A	ENST00000306842.2	-	1	85	c.61G>T	c.(61-63)Gga>Tga	p.G21*		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		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;0.0213)		ATCCGCAGTCCCGGCTGGTGG	0.537000													31	61					6.53348e-20	8.52674e-20	0.064281	1	0
TBX5	6910	broad.mit.edu	37	12	114793522	114793522	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr12:114793522G>C	ENST00000310346.4	-	9	2038	c.1372C>G	c.(1372-1374)Cag>Gag	p.Q458E	TBX5_ENST00000405440.2_Missense_Mutation_p.Q458E|TBX5_ENST00000349716.5_Missense_Mutation_p.Q408E	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	458				MDRLPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQ TS -> WTGYPTSTSPLTSPRGPWSLGWLAWQPWLPTAGRG NVPSTRPP (in Ref. 1; CAA70592).	cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		ACGGAGGTCTGGTGCTGGAAC	0.657000													4	43					0	0	0.009096	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38682942	38682942	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr19:38682942G>C	ENST00000222345.6	+	17	5097	c.4588G>C	c.(4588-4590)Gac>Cac	p.D1530H		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1530					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCAGGAGAGAGACACGGGAGT	0.617000													6	36					0	0	0.021553	0	0
RLF	6018	broad.mit.edu	37	1	40627264	40627264	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:40627264G>T	ENST00000372771.4	+	1	220	c.193G>T	c.(193-195)Gtg>Ttg	p.V65L		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	65					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GGAGCAAGAGGTGTCGGAGGT	0.662000													21	238					9.57634e-11	1.13585e-10	0.018920	1	0
RBBP6	5930	broad.mit.edu	37	16	24582366	24582366	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr16:24582366G>T	ENST00000319715.4	+	18	4411	c.3979G>T	c.(3979-3981)Gaa>Taa	p.E1327*	RBBP6_ENST00000381039.3_Nonsense_Mutation_p.E487*|RBBP6_ENST00000348022.2_Nonsense_Mutation_p.E1293*	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1327					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AGATGACTTTGAATCTGAAGA	0.338000													31	22					1.22384e-17	1.56758e-17	0.054565	1	0
LCE1A	353131	broad.mit.edu	37	1	152800071	152800071	+	Silent	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:152800071T>C	ENST00000335123.2	+	1	123	c.123T>C	c.(121-123)tcT>tcC	p.S41S		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	41	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			cTCCAGTCTCTTCCTGCTGCA	0.677000													55	121					0	0	0.048971	0	0
AZIN1	51582	broad.mit.edu	37	8	103842161	103842161	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr8:103842161T>C	ENST00000337198.5	-	10	2071	c.908A>G	c.(907-909)gAa>gGa	p.E303G	AZIN1_ENST00000347770.4_Missense_Mutation_p.E303G	NM_148174.2	NP_680479.1	O14977	AZIN1_HUMAN	antizyme inhibitor 1	303					polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	catalytic activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	9	Lung NSC(17;0.000143)|all_lung(17;0.000294)		OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)			TCCGGTTTTTTCTACTGGAAT	0.303000													45	40					0	0	0.048971	0	0
GCNT2	2651	broad.mit.edu	37	6	10587045	10587045	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr6:10587045G>A	ENST00000265012.4	+	1	1067	c.823G>A	c.(823-825)Gac>Aac	p.D275N	GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000316170.3_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000397423.2_Intron	NM_145655.3	NP_663630.2	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	275						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		AGACTTTGTCGACTTTGTTCT	0.408000													29	80					0	0	0.041601	0	0
MRE11A	4361	broad.mit.edu	37	11	94201034	94201034	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr11:94201034T>A	ENST00000323929.3	-	10	1265	c.1043A>T	c.(1042-1044)gAa>gTa	p.E348V	MRE11A_ENST00000393241.4_Missense_Mutation_p.E348V|MRE11A_ENST00000323977.3_Missense_Mutation_p.E348V|MRE11A_ENST00000407439.3_Missense_Mutation_p.E351V	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	348					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				ACGTTCCCGTTCAGCATTTTC	0.338000								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				21	39					0	0	0.024334	0	0
STON2	85439	broad.mit.edu	37	14	81744686	81744686	+	Silent	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr14:81744686T>C	ENST00000555447.1	-	6	1381	c.969A>G	c.(967-969)gtA>gtG	p.V323V	STON2_ENST00000267540.2_Silent_p.V323V	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	323					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		GGGAGGGCTGTACATCCTGCA	0.507000													19	99					0	0	0.049695	0	0
SPEF2	79925	broad.mit.edu	37	5	35779279	35779279	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr5:35779279T>G	ENST00000440995.2	+	30	4263	c.4263T>G	c.(4261-4263)aaT>aaG	p.N1421K	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000303129.4_De_novo_Start_InFrame|SPEF2_ENST00000356031.3_Missense_Mutation_p.N1426K			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1426					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)			AAATTCAGAATGAACTTTATT	0.373000													30	114					0	0	0.037714	0	0
QSOX1	5768	broad.mit.edu	37	1	180165560	180165560	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:180165560C>G	ENST00000367602.3	+	12	1706	c.1632C>G	c.(1630-1632)ttC>ttG	p.F544L	QSOX1_ENST00000367600.5_Missense_Mutation_p.F544L			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	544					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TCCTGGACTTCCCTGCAGCTG	0.617000													15	244					0	0	0.024245	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120345320	120345320	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr11:120345320A>G	ENST00000397843.2	+	32	3251	c.3085A>G	c.(3085-3087)Aag>Gag	p.K1029E	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.K1010E|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.K926E	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1029	PH.				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		ATTGGTTTGGAAGGTGAATAG	0.358000			T	MLL	AML								6	82					0	0	0.029380	0	0
ACTN1	87	broad.mit.edu	37	14	69341722	69341722	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr14:69341722T>C	ENST00000193403.6	-	21	2916	c.2533A>G	c.(2533-2535)Atg>Gtg	p.M845V	ACTN1_ENST00000438964.2_Missense_Mutation_p.M840V|ACTN1_ENST00000538545.2_Missense_Mutation_p.M883V|ACTN1_ENST00000376839.3_Missense_Mutation_p.M775V|ACTN1_ENST00000394419.4_Missense_Mutation_p.M867V	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	845					focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		AGCTCGTCCATGGTAATGTAG	0.672000													13	29					0	0	0.016723	0	0
ETNPPL	64850	broad.mit.edu	37	4	109670611	109670611	+	Missense_Mutation	SNP	T	T	A	rs113564708		TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr4:109670611T>A	ENST00000296486.3	-	8	864	c.710A>T	c.(709-711)cAc>cTc	p.H237L	ETNPPL_ENST00000510706.1_Missense_Mutation_p.H197L|ETNPPL_ENST00000411864.2_Missense_Mutation_p.H231L|ETNPPL_ENST00000512646.1_Missense_Mutation_p.H179L	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2			ethanolamine-phosphate phospho-lyase																		CCCTGCACCGTGTACATATCT	0.433000													41	38					0	0	0.030466	0	0
MGAT5B	146664	broad.mit.edu	37	17	74942482	74942482	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr17:74942482T>C	ENST00000569840.2	+	16	2447	c.1873T>C	c.(1873-1875)Tac>Cac	p.Y625H	MGAT5B_ENST00000428789.2_Missense_Mutation_p.Y634H|MGAT5B_ENST00000301618.4_Missense_Mutation_p.Y623H	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	625						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACCCTACGAGTACACCTGCGA	0.657000													9	22					0	0	0.008291	0	0
LGR6	59352	broad.mit.edu	37	1	202245610	202245610	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:202245610C>G	ENST00000367278.3	+	5	694	c.605C>G	c.(604-606)cCc>cGc	p.P202R	LGR6_ENST00000439764.2_Intron|LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000255432.7_Missense_Mutation_p.P150R	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	202						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						AGCCACATCCCCGACTACGCG	0.632000													8	28					0	0	0.006214	0	0
ZPLD1	131368	broad.mit.edu	37	3	102176646	102176646	+	Silent	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr3:102176646G>T	ENST00000306176.1	+	5	679	c.579G>T	c.(577-579)gtG>gtT	p.V193V	ZPLD1_ENST00000491959.1_Silent_p.V177V|ZPLD1_ENST00000466937.1_Silent_p.V177V	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	177	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CTATTTCTGTGAGAGAGAACA	0.383000													20	111					3.01185e-09	3.47875e-09	0.021523	1	0
TUBB8P7	197331	broad.mit.edu	37	16	90162555	90162555	+	RNA	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr16:90162555C>T	ENST00000564451.1	+	0	1908				TUBB8P7_ENST00000567960.1_RNA																							ATGCCACGGCCGAGGAGGAGG	0.522000													4	105					0	0	0.009096	0	0
FN3KRP	79672	broad.mit.edu	37	17	80676907	80676907	+	Silent	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr17:80676907G>A	ENST00000269373.6	+	2	340	c.267G>A	c.(265-267)gaG>gaA	p.E89E	FN3KRP_ENST00000535965.1_Silent_p.E39E	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	89							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)			TGGTGATGGAGCACATGGACA	0.527000													31	72					0	0	0.045705	0	0
PRKAR1B	5575	broad.mit.edu	37	7	590208	590208	+	Silent	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr7:590208C>A	ENST00000406797.1	-	11	1179	c.1005G>T	c.(1003-1005)cgG>cgT	p.R335R	PRKAR1B_ENST00000403562.1_Silent_p.R335R|PRKAR1B_ENST00000360274.4_Silent_p.R335R|PRKAR1B_ENST00000544935.1_Silent_p.R335R|PRKAR1B_ENST00000537384.1_Silent_p.R335R	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	335					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		CAGTGGCCGCCCGGGGCCGGT	0.662000													14	13					2.23348e-06	2.44114e-06	0.028581	1	0
KANK4	163782	broad.mit.edu	37	1	62734105	62734105	+	Silent	SNP	T	T	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:62734105T>A	ENST00000371153.4	-	5	2463	c.2085A>T	c.(2083-2085)gcA>gcT	p.A695A	KANK4_ENST00000371150.1_Silent_p.A51A|KANK4_ENST00000354381.3_Silent_p.A67A	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	695										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						ACTTCTTCTCTGCCTCGCTGT	0.587000													6	120					0	0	0.021553	0	0
AP3B1	8546	broad.mit.edu	37	5	77511942	77511942	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr5:77511942C>A	ENST00000255194.6	-	7	898	c.723G>T	c.(721-723)caG>caT	p.Q241H	AP3B1_ENST00000519295.1_Missense_Mutation_p.Q192H	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	241					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)		TTATGACAACCTGCCCCCACT	0.418000									Hermansky-Pudlak syndrome				35	39					6.57855e-14	8.18836e-14	0.036044	1	0
KRTAP26-1	388818	broad.mit.edu	37	21	31692032	31692032	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr21:31692032G>T	ENST00000360542.3	-	1	575	c.322C>A	c.(322-324)Ctt>Att	p.L108I		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	108						intermediate filament				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						GATACTGGAAGGCAGGAACTG	0.527000													35	89					9.04072e-19	1.16932e-18	0.015359	1	0
PPP6C	5537	broad.mit.edu	37	9	127933458	127933458	+	Splice_Site	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr9:127933458C>A	ENST00000451402.1	-	3	408	c.186_splice	c.e3-1	p.R63_splice	PPP6C_ENST00000373546.3_5'UTR|PPP6C_ENST00000373547.4_Splice_Site_p.R26_splice|PPP6C_ENST00000415905.1_Splice_Site_p.R26_splice	NM_001123355.1	NP_001116827.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	26				LCEL -> AG (in Ref. 2; AAD45400).	G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						GTCACATAGCCGCTATAAAAA	0.333000													59	48					2.12129e-23	2.83374e-23	0.048971	1	0
WDR72	256764	broad.mit.edu	37	15	53908296	53908296	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr15:53908296A>G	ENST00000396328.1	-	15	2346	c.2107T>C	c.(2107-2109)Tct>Cct	p.S703P	WDR72_ENST00000360509.5_Missense_Mutation_p.S703P|WDR72_ENST00000559418.1_Missense_Mutation_p.S713P|WDR72_ENST00000557913.1_Missense_Mutation_p.S700P	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	703										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GAACTGGAAGAGTCAACATCA	0.428000													4	66					0	0	0.009096	0	0
ZNF107	51427	broad.mit.edu	37	7	64166760	64166760	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr7:64166760C>G	ENST00000395391.1	+	4	1453	c.78C>G	c.(76-78)ttC>ttG	p.F26L	ZNF107_ENST00000423627.1_Missense_Mutation_p.F26L|ZNF107_ENST00000344930.3_Missense_Mutation_p.F26L			Q9UII5	ZN107_HUMAN	zinc finger protein 107	26					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				AAGATTCTTTCCAGAAAGTGA	0.363000													16	68					0	0	0.012319	0	0
MMRN1	22915	broad.mit.edu	37	4	90856470	90856470	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr4:90856470T>C	ENST00000394980.1	+	7	1958	c.1639T>C	c.(1639-1641)Tct>Cct	p.S547P	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.S547P|MMRN1_ENST00000508372.1_Missense_Mutation_p.S289P			Q13201	MMRN1_HUMAN	multimerin 1	547					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TGAGTACATGTCTACTTTACA	0.383000													12	63					0	0	0.013537	0	0
ZNF146	7705	broad.mit.edu	37	19	36728021	36728021	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr19:36728021C>G	ENST00000456324.1	+	3	2128	c.679C>G	c.(679-681)Ctc>Gtc	p.L227V	ZNF146_ENST00000443387.2_Missense_Mutation_p.L227V|ZNF565_ENST00000355114.5_Intron	NM_001099638.1|NM_001099639.1	NP_001093108.1|NP_001093109.1	Q15072	OZF_HUMAN	zinc finger protein 146	227	Interaction with TERF2IP.				regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding	p.L227F(1)		kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					GAGCTCATCTCTCACTGTGCA	0.443000													46	108					0	0	0.036044	0	0
NDUFS6	4726	broad.mit.edu	37	5	1816029	1816029	+	Nonstop_Mutation	SNP	A	A	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr5:1816029A>T	ENST00000274137.5	+	4	392	c.374A>T	c.(373-375)tAg>tTg	p.*125L		NM_004553.4	NP_004544.1	O75380	NDUS6_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)	0					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	7					NADH(DB00157)	CACCACCACTAGAGCGTGTGG	0.532000													28	96					0	0	0.034045	0	0
COL4A6	1288	broad.mit.edu	37	X	107434703	107434703	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chrX:107434703G>T	ENST00000334504.7	-	19	1474	c.1241C>A	c.(1240-1242)cCa>cAa	p.P414Q	COL4A6_ENST00000372216.4_Missense_Mutation_p.P415Q|COL4A6_ENST00000394872.2_Missense_Mutation_p.P415Q|COL4A6_ENST00000545689.1_Missense_Mutation_p.P414Q|COL4A6_ENST00000538570.1_Missense_Mutation_p.P414Q	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	415	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GGTACGGCCTGGGTTTCCTTG	0.557000									Alport syndrome with Diffuse Leiomyomatosis				79	34					1.07363e-35	1.48678e-35	0.048971	1	0
CDAN1	146059	broad.mit.edu	37	15	43028100	43028100	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr15:43028100T>C	ENST00000356231.3	-	3	769	c.746A>G	c.(745-747)gAg>gGg	p.E249G		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	249						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CTCTCGCTCCTCTTGCAGACT	0.607000													37	33					0	0	0.015359	0	0
ITLN1	55600	broad.mit.edu	37	1	160851746	160851746	+	Splice_Site	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:160851746C>T	ENST00000326245.3	-	4	521		c.e4+1			NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)						positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GTGGCACCAACCTTGTAGTCA	0.607000													9	182					0	0	0.006214	0	0
FLG	2312	broad.mit.edu	37	1	152286065	152286065	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:152286065C>G	ENST00000368799.1	-	3	1332	c.1297G>C	c.(1297-1299)Gac>Cac	p.D433H	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	433	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATTGTGTGTCTGAGTTTTCT	0.602000									Ichthyosis				71	408					0	0	0.048971	0	0
TBX4	9496	broad.mit.edu	37	17	59560456	59560456	+	Missense_Mutation	SNP	G	G	T	rs145825881		TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr17:59560456G>T	ENST00000393853.4	+	9	1383	c.1220G>T	c.(1219-1221)gGg>gTg	p.G407V	TBX4_ENST00000589449.1_Intron|TBX4_ENST00000240335.1_Missense_Mutation_p.G406V			P57082	TBX4_HUMAN	T-box 4	406					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GGGGTGTCTGGGGTGGACGAC	0.592000													45	53					8.48111e-28	1.15632e-27	0.048971	1	0
LPHN2	23266	broad.mit.edu	37	1	82447618	82447618	+	Silent	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:82447618G>A	ENST00000370728.1	+	21	3873	c.3228G>A	c.(3226-3228)caG>caA	p.Q1076Q	LPHN2_ENST00000370713.1_Silent_p.Q1063Q|LPHN2_ENST00000370715.1_Silent_p.Q1063Q|LPHN2_ENST00000370730.1_Silent_p.Q1076Q|LPHN2_ENST00000370721.1_Silent_p.Q1001Q|LPHN2_ENST00000370717.2_Silent_p.Q1091Q|LPHN2_ENST00000271029.4_Silent_p.Q1091Q|LPHN2_ENST00000335786.5_Silent_p.Q1076Q|LPHN2_ENST00000359929.3_Silent_p.Q1063Q|LPHN2_ENST00000319517.6_Silent_p.Q1063Q|LPHN2_ENST00000370725.1_Silent_p.Q1091Q|LPHN2_ENST00000370727.1_Silent_p.Q1091Q|LPHN2_ENST00000370723.1_Silent_p.Q1078Q|LPHN2_ENST00000394879.1_Silent_p.Q1078Q|LPHN2_ENST00000469377.2_Intron			O95490	LPHN2_HUMAN	latrophilin 2	1076					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ATGCTTTCCAGGGAGTGTTCA	0.373000													4	144					0	0	0.009096	0	0
IGKV2D-24	28885	broad.mit.edu	37	2	90044277	90044277	+	RNA	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr2:90044277C>A	ENST00000462693.1	+	0	228																											AGAGGCCAGGCCAGCCTCCAA	0.522000													100	108					1.44639e-49	2.04037e-49	0.048971	1	0
SMCO3	440087	broad.mit.edu	37	12	14959145	14959145	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr12:14959145G>T	ENST00000316048.2	-	2	542	c.470C>A	c.(469-471)gCt>gAt	p.A157D	C12orf60_ENST00000330828.2_Intron|C12orf60_ENST00000527783.1_Intron	NM_001013698.2	NP_001013720.2			single-pass membrane protein with coiled-coil domains 3																		AAGGAGAGAAGCACCAATTTG	0.463000													52	60					7.84493e-40	1.10079e-39	0.048971	1	0
MYH15	22989	broad.mit.edu	37	3	108175615	108175615	+	Silent	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr3:108175615T>C	ENST00000273353.3	-	20	2252	c.2196A>G	c.(2194-2196)caA>caG	p.Q732Q	MYH15_ENST00000495753.2_5'UTR	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	732	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AGGTTTACCTTTGTTTAAAAT	0.438000													13	118					0	0	0.016723	0	0
DSC3	1825	broad.mit.edu	37	18	28609478	28609478	+	Silent	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr18:28609478T>C	ENST00000434452.1	-	4	625	c.471A>G	c.(469-471)caA>caG	p.Q157Q	DSC3_ENST00000360428.4_Silent_p.Q157Q	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	157	Cadherin 1.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			AACCTACTTGTTGAAGAAACA	0.393000													44	53					0	0	0.042209	0	0
PHIP	55023	broad.mit.edu	37	6	79650459	79650459	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr6:79650459C>A	ENST00000275034.4	-	40	5584	c.5417G>T	c.(5416-5418)cGa>cTa	p.R1806L	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1806					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CTTTCGGACTCGTCCTCTACT	0.378000													6	41					2.0095e-06	2.21003e-06	0.029380	1	0
FRRS1	391059	broad.mit.edu	37	1	100206374	100206374	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:100206374G>A	ENST00000414213.1	-	6	1152	c.551C>T	c.(550-552)cCt>cTt	p.P184L	FRRS1_ENST00000287474.5_Missense_Mutation_p.P184L			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	184					electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		GGAAACGGGAGGTAACGTTGG	0.428000													20	113					0	0	0.012319	0	0
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	by1000genomes	TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			3	34					0	0	0.004672	0	0
NELL1	4745	broad.mit.edu	37	11	20805357	20805357	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr11:20805357A>G	ENST00000298925.5	+	4	553	c.400A>G	c.(400-402)Att>Gtt	p.I134V	NELL1_ENST00000532434.1_Missense_Mutation_p.I106V|NELL1_ENST00000357134.5_Missense_Mutation_p.I106V|NELL1_ENST00000325319.5_Missense_Mutation_p.I106V			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	106	TSP N-terminal.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GATACTGTCCATTCGAGAACT	0.408000													10	79					0	0	0.006214	0	0
CC2D1B	200014	broad.mit.edu	37	1	52819278	52819278	+	Silent	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:52819278C>A	ENST00000371586.2	-	24	2628	c.2490G>T	c.(2488-2490)gtG>gtT	p.V830V	CC2D1B_ENST00000284376.3_Silent_p.V824V|RP11-155O18.6_ENST00000606527.1_RNA|CC2D1B_ENST00000460261.1_5'UTR	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	830										breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						GCCTCACCTTCACCTCCAGCT	0.612000													8	69					5.18039e-06	5.62716e-06	0.038147	1	0
HECW1	23072	broad.mit.edu	37	7	43351509	43351509	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr7:43351509G>A	ENST00000395891.1	+	4	780	c.175G>A	c.(175-177)Gat>Aat	p.D59N	HECW1_ENST00000453890.1_Missense_Mutation_p.D59N	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	59					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CGGCCCCCACGATGGCGTCAC	0.627000													8	86					0	0	0.006214	0	0
SAMSN1	64092	broad.mit.edu	37	21	15882676	15882676	+	Silent	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr21:15882676C>T	ENST00000285670.2	-	6	894	c.720G>A	c.(718-720)acG>acA	p.T240T	SAMSN1_ENST00000400566.1_Silent_p.T172T|SAMSN1_ENST00000400564.1_Intron	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	172					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		GCGTGAAATCCGTATGCACTC	0.483000													9	99					0	0	0.006214	0	0
GPR149	344758	broad.mit.edu	37	3	154146579	154146579	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr3:154146579C>A	ENST00000389740.2	-	1	925	c.826G>T	c.(826-828)Gga>Tga	p.G276*		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	276						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GCACCCGGTCCGAACACGGTG	0.672000													38	90					1.60099e-16	2.03099e-16	0.021022	1	0
GPC5	2262	broad.mit.edu	37	13	92345668	92345668	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr13:92345668G>C	ENST00000377067.3	+	3	925	c.553G>C	c.(553-555)Gac>Cac	p.D185H		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	185						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TGGTGTGACTGACAGTTCCCT	0.448000													5	157					0	0	0.021553	0	0
AP1M1	8907	broad.mit.edu	37	19	16339676	16339676	+	Silent	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr19:16339676G>A	ENST00000291439.3	+	9	1433	c.984G>A	c.(982-984)acG>acA	p.T328T	AP1M1_ENST00000444449.2_Silent_p.T340T|AP1M1_ENST00000541844.1_Silent_p.T256T|AP1M1_ENST00000590756.1_Silent_p.T256T|AP1M1_ENST00000429941.2_Intron	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	328	MHD.				cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|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			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						TCAAGACGACGGTGGGGAGCG	0.592000													32	15					0	0	0.050027	0	0
KRT6A	3853	broad.mit.edu	37	12	52884453	52884453	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr12:52884453C>A	ENST00000330722.6	-	5	1045	c.977G>T	c.(976-978)cGc>cTc	p.R326L		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	326	Linker 12.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GTCCAGGTTGCGGTTGTTGTC	0.537000													91	144					1.76421e-39	2.46245e-39	0.048971	1	0
USP16	10600	broad.mit.edu	37	21	30411359	30411359	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr21:30411359A>G	ENST00000334352.4	+	9	976	c.745A>G	c.(745-747)Ata>Gta	p.I249V	USP16_ENST00000399975.3_Missense_Mutation_p.I248V|USP16_ENST00000399976.2_Missense_Mutation_p.I249V|USP16_ENST00000535828.1_Intron	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN	ubiquitin specific peptidase 16	249					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						ACCATTAGAAATAAACCTTGA	0.373000													46	43					0	0	0.048971	0	0
FAT3	120114	broad.mit.edu	37	11	92534534	92534534	+	Silent	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr11:92534534C>T	ENST00000298047.6	+	9	8372	c.8355C>T	c.(8353-8355)gcC>gcT	p.A2785A	FAT3_ENST00000525166.1_Silent_p.A2635A|FAT3_ENST00000409404.2_Silent_p.A2785A			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2785	Cadherin 25.				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)				AAGTAGCAGCCACTATACCCC	0.428000										TCGA Ovarian(4;0.039)			20	45					0	0	0.012319	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159819654	159819654	+	RNA	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr3:159819654C>G	ENST00000497452.1	-	0	517																											AAGAAGAAAACCAGATGGAAC	0.502000													25	226					0	0	0.018920	0	0
REV3L	5980	broad.mit.edu	37	6	111698964	111698964	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr6:111698964T>C	ENST00000435970.1	-	14	2119	c.1303A>G	c.(1303-1305)Agt>Ggt	p.S435G	REV3L_ENST00000368802.3_Missense_Mutation_p.S513G|REV3L_ENST00000368805.1_Missense_Mutation_p.S513G|REV3L_ENST00000358835.3_Missense_Mutation_p.S513G			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	513					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AGAAGCAAACTGTTATCACTC	0.378000								DNA polymerases (catalytic subunits)					35	35					0	0	0.015359	0	0
NLRP6	171389	broad.mit.edu	37	11	282776	282776	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr11:282776T>G	ENST00000534750.1	+	5	2382	c.2177T>G	c.(2176-2178)cTg>cGg	p.L726R	NLRP6_ENST00000312165.5_Missense_Mutation_p.L727R	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	727						cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		ACTGACCCACTGTGCCATCTG	0.587000													6	75					0	0	0.021553	0	0
OSBP	5007	broad.mit.edu	37	11	59347700	59347700	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr11:59347700A>C	ENST00000263847.1	-	11	2304	c.1825T>G	c.(1825-1827)Tgt>Ggt	p.C609G		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	609					lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TTAAGATTACACTTGTCTCCT	0.333000													21	83					0	0	0.016522	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507111	74507111	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:74507111C>A	ENST00000354431.4	-	7	1695	c.1504G>T	c.(1504-1506)Gct>Tct	p.A502S	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.A502S	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	502										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AGAAACAGAGCTTTTCTCTCT	0.328000													40	92					2.66277e-13	3.27582e-13	0.027894	1	0
SNHG14	104472715	broad.mit.edu	37	15	25463854	25463854	+	RNA	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr15:25463854G>T	ENST00000424208.1	+	0	2994				SNHG14_ENST00000453082.2_RNA	NR_003305.1																						CCAGCCTGGGGGAGAATTTTG	0.532000													18	207					6.49762e-13	7.9382e-13	0.038395	1	0
CEP152	22995	broad.mit.edu	37	15	49030928	49030928	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr15:49030928T>C	ENST00000380950.2	-	27	4838	c.4651A>G	c.(4651-4653)Aaa>Gaa	p.K1551E	CEP152_ENST00000399334.3_Missense_Mutation_p.K1495E	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1495					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CCTTGACTTTTCTCAGATGCA	0.418000													23	17					0	0	0.018920	0	0
MCF2L2	23101	broad.mit.edu	37	3	183017802	183017802	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr3:183017802C>G	ENST00000328913.3	-	11	1593	c.1296G>C	c.(1294-1296)caG>caC	p.Q432H	MCF2L2_ENST00000447025.2_Missense_Mutation_p.Q432H|MCF2L2_ENST00000473233.1_Missense_Mutation_p.Q432H|MCF2L2_ENST00000414362.2_Missense_Mutation_p.Q432H	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	432					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CCTTGTCCAGCTGTCTATGAA	0.458000													12	188					0	0	0.024245	0	0
HMGB4	127540	broad.mit.edu	37	1	34330167	34330167	+	Silent	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:34330167G>A	ENST00000522796.1	+	4	2280	c.375G>A	c.(373-375)aaG>aaA	p.K125K	CSMD2_ENST00000373381.4_Intron|HMGB4_ENST00000519684.1_Silent_p.K125K|HMGB4_ENST00000425537.1_3'UTR			B2R4X7	B2R4X7_HUMAN	high mobility group box 4	125						nucleus	DNA binding			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AGGTGGCCAAGGCCACAGGGA	0.547000													40	147					0	0	0.030466	0	0
CTNND2	1501	broad.mit.edu	37	5	11411696	11411696	+	Silent	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr5:11411696G>A	ENST00000304623.8	-	5	580	c.391C>T	c.(391-393)Cta>Tta	p.L131L	CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000503622.1_Silent_p.L40L|CTNND2_ENST00000511377.1_Silent_p.L40L|CTNND2_ENST00000359640.2_Silent_p.L131L	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	131					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GATTCCTGTAGTGACCTAATA	0.373000													50	66					0	0	0.048971	0	0
CPE	1363	broad.mit.edu	37	4	166403509	166403509	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr4:166403509G>C	ENST00000402744.4	+	4	1068	c.788G>C	c.(787-789)aGt>aCt	p.S263T		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	263					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GAGACGCGGAGTGGTAGGTAT	0.368000													22	57					0	0	0.016522	0	0
RIT2	6014	broad.mit.edu	37	18	40554087	40554087	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr18:40554087C>G	ENST00000589109.1	-	3	357	c.186G>C	c.(184-186)agG>agC	p.R62S	RIT2_ENST00000326695.5_Missense_Mutation_p.R62S|RIT2_ENST00000282028.4_Missense_Mutation_p.R62S|RIT2_ENST00000590910.1_Missense_Mutation_p.R62S	NM_001272077.1	NP_001259006.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	62					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CATTGTCAATCCTGACCTGGG	0.363000													10	30					0	0	0.008291	0	0
VPS41	27072	broad.mit.edu	37	7	38805189	38805189	+	Silent	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr7:38805189T>C	ENST00000310301.4	-	16	1374	c.1320A>G	c.(1318-1320)ggA>ggG	p.G440G	VPS41_ENST00000395969.2_Silent_p.G415G	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	440					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CCTTAAGCTGTCCAATTTCTT	0.338000													4	59					0	0	0.014758	0	0
KDM4C	23081	broad.mit.edu	37	9	6990504	6990504	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr9:6990504A>T	ENST00000381309.3	+	12	2331	c.1766A>T	c.(1765-1767)cAg>cTg	p.Q589L	KDM4C_ENST00000536108.1_Missense_Mutation_p.Q408L|KDM4C_ENST00000428870.2_Missense_Mutation_p.Q276L|KDM4C_ENST00000535193.1_Missense_Mutation_p.Q611L|KDM4C_ENST00000543771.1_Missense_Mutation_p.Q589L|KDM4C_ENST00000442236.2_Intron|KDM4C_ENST00000381306.3_Missense_Mutation_p.Q589L	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	589					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						CTTGTGAAGCAGCAGGCGCCA	0.408000													10	23					0	0	0.008291	0	0
OR5V1	81696	broad.mit.edu	37	6	29323494	29323494	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr6:29323494G>C	ENST00000377154.1	-	4	778	c.479C>G	c.(478-480)aCa>aGa	p.T160R	OR5V1_ENST00000543825.1_Missense_Mutation_p.T160R			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGTCAACACTGTATGCACCAC	0.438000													7	78					0	0	0.029380	0	0
ST8SIA6	338596	broad.mit.edu	37	10	17362880	17362880	+	Silent	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr10:17362880G>T	ENST00000377602.4	-	8	1268	c.1194C>A	c.(1192-1194)gcC>gcA	p.A398A		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	398					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						ACTTTGTTTAGGCGACTTCAC	0.368000													38	86					4.11147e-13	5.03465e-13	0.017118	1	0
OR5AR1	219493	broad.mit.edu	37	11	56431909	56431909	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr11:56431909C>A	ENST00000302969.2	+	1	772	c.748C>A	c.(748-750)Ctc>Atc	p.L250I		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TGGCATCACCCTCTTCTATGG	0.507000													37	69					1.08052e-11	1.29028e-11	0.019004	1	0
ZNF618	114991	broad.mit.edu	37	9	116811415	116811415	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr9:116811415C>G	ENST00000288466.7	+	14	1653	c.1554C>G	c.(1552-1554)atC>atG	p.I518M	ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000374126.5_Missense_Mutation_p.I611M	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	611					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I611I(1)|p.I518I(1)		breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						TGTCGGAGATCAGGACAGTGT	0.607000													44	43					0	0	0.045515	0	0
MIP	4284	broad.mit.edu	37	12	56848359	56848359	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr12:56848359T>C	ENST00000257979.4	-	1	67	c.39A>G	c.(37-39)atA>atG	p.I13M	MIP_ENST00000555551.1_Intron	NM_012064.3	NP_036196.1	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	13					response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						ACTCAGCGAATATGGCCCTCC	0.602000													40	78					0	0	0.042209	0	0
RBAK	57786	broad.mit.edu	37	7	5112803	5112803	+	Missense_Mutation	SNP	C	C	T	rs141093707		TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr7:5112803C>T	ENST00000407184.1	+	8	952	c.686C>T	c.(685-687)aCc>aTc	p.T229I	RBAK_ENST00000498308.1_3'UTR|RBAK_ENST00000396904.2_3'UTR			Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	0	Required for interaction with RB1.		G -> E (in dbSNP:rs35352738).		negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		CCTCTCCAGACCCCACCCCCA	0.572000													31	58					0	0	0.054565	0	0
FMO1	2326	broad.mit.edu	37	1	171244541	171244541	+	Missense_Mutation	SNP	G	G	T	rs28360397	byFrequency	TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:171244541G>T	ENST00000354841.4	+	3	509	c.378G>T	c.(376-378)gaG>gaT	p.E126D	FMO1_ENST00000402921.2_Missense_Mutation_p.E63D|FMO1_ENST00000367750.3_Missense_Mutation_p.E126D|FMO1_ENST00000469112.1_3'UTR			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	126					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCCAATGGGAGGTGGTCACTA	0.433000													52	83					1.51926e-22	2.01931e-22	0.048971	1	0
TFAP2D	83741	broad.mit.edu	37	6	50696669	50696669	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr6:50696669G>T	ENST00000008391.3	+	4	927	c.699G>T	c.(697-699)gaG>gaT	p.E233D	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	233							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CCATTGCTGAGGTAAAGAGGC	0.488000													43	49					1.32136e-16	1.68028e-16	0.033182	1	0
MIR181A1	406995	broad.mit.edu	37	1	198828243	198828243	+	RNA	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:198828243C>G	ENST00000385026.1	-	0	39					NR_029626.1																						CCAAACTCACCGACAGCGTTG	0.418000													8	159					0	0	0.038147	0	0
OR51F2	119694	broad.mit.edu	37	11	4843054	4843054	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr11:4843054A>G	ENST00000322110.5	+	1	504	c.439A>G	c.(439-441)Act>Gct	p.T147A	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTGAGATACACTACCATCCT	0.458000													9	185					0	0	0.047766	0	0
WFDC2	10406	broad.mit.edu	37	20	44108642	44108642	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr20:44108642A>T	ENST00000342873.3	+	1	564	c.131A>T	c.(130-132)gAc>gTc	p.D44V	WFDC2_ENST00000339946.3_Missense_Mutation_p.D47V|WFDC2_ENST00000488143.1_3'UTR|WFDC2_ENST00000372676.3_Missense_Mutation_p.D95V			Q14508	WFDC2_HUMAN	WAP four-disulfide core domain 2	95	WAP 1.				proteolysis|spermatogenesis	extracellular space	serine-type endopeptidase inhibitor activity			lung(1)	1		Myeloproliferative disorder(115;0.0122)				CTCTGTCGGGACCAGTGCCAG	0.557000													92	158					0	0	0.048971	0	0
TGFBR3	7049	broad.mit.edu	37	1	92327203	92327203	+	Splice_Site	SNP	T	T	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:92327203T>A	ENST00000212355.4	-	2	353		c.e2-2		TGFBR3_ENST00000370399.2_Splice_Site	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III						BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TCAAACTGCCTGTAAAACAAA	0.353000													9	5					0	0	0.047766	0	0
OR6C68	403284	broad.mit.edu	37	12	55886732	55886732	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr12:55886732T>A	ENST00000379662.1	+	1	586	c.586T>A	c.(586-588)Tca>Aca	p.S196T	OR6C68_ENST00000548615.1_Missense_Mutation_p.S191T|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA			A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C, member 68	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						CTCAGACACATCATTAATTGA	0.353000													19	23					0	0	0.038395	0	0
MACROD2	140733	broad.mit.edu	37	20	16025282	16025282	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr20:16025282T>C	ENST00000402914.1	+	13	1055	c.593T>C	c.(592-594)aTa>aCa	p.I198T	MACROD2_ENST00000407045.3_Missense_Mutation_p.I84T|MACROD2_ENST00000378058.3_Missense_Mutation_p.I198T|MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Missense_Mutation_p.I433T	NM_001033087.1	NP_001028259.1	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	433	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GATCAACTAATAGGTAAGATG	0.373000													6	88					0	0	0.021553	0	0
C21orf91	54149	broad.mit.edu	37	21	19165829	19165829	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr21:19165829T>A	ENST00000284881.4	-	5	887	c.797A>T	c.(796-798)cAc>cTc	p.H266L	AL109761.5_ENST00000428689.1_RNA|C21orf91_ENST00000400559.3_Missense_Mutation_p.H265L|C21orf91_ENST00000400558.3_3'UTR	NM_001100420.1|NM_017447.3	NP_001093890.1|NP_059143.3	Q9NYK6	EURL_HUMAN	chromosome 21 open reading frame 91	266										endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		GATGGCAACGTGGCGGACATG	0.413000													23	24					0	0	0.016522	0	0
SELO	83642	broad.mit.edu	37	22	50655551	50655551	+	Silent	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr22:50655551C>T	ENST00000380903.2	+	8	1897	c.1839C>T	c.(1837-1839)ttC>ttT	p.F613F	RP3-402G11.5_ENST00000492092.1_3'UTR	NM_031454.1	NP_113642.1																					GCGGGGACTTCTCAGAGGCAA	0.652000													8	62					0	0	0.038147	0	0
CUL9	23113	broad.mit.edu	37	6	43154012	43154012	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr6:43154012G>A	ENST00000252050.4	+	4	1154	c.1070G>A	c.(1069-1071)aGa>aAa	p.R357K	CUL9_ENST00000354495.3_Missense_Mutation_p.R357K|CUL9_ENST00000372647.2_Missense_Mutation_p.R357K	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	357					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						ACCACCCCCAGAAGACAAGGG	0.592000													22	74					0	0	0.014323	0	0
OR5D14	219436	broad.mit.edu	37	11	55563766	55563766	+	Silent	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr11:55563766C>A	ENST00000335605.1	+	1	735	c.735C>A	c.(733-735)tcC>tcA	p.S245S		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				CCTGGGCCTCCCACCTGACTT	0.463000													20	101					3.10358e-05	3.31676e-05	0.014323	1	0
PRICKLE2	166336	broad.mit.edu	37	3	64085326	64085326	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr3:64085326C>G	ENST00000295902.6	-	8	2521	c.1936G>C	c.(1936-1938)Gat>Cat	p.D646H	PRICKLE2-AS1_ENST00000476308.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.D702H	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	646						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		ATCCCTCCATCAAAATCAAAG	0.587000													4	83					0	0	0.009096	0	0
XIRP2	129446	broad.mit.edu	37	2	168107994	168107994	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr2:168107994A>G	ENST00000409195.1	+	9	10181	c.10092A>G	c.(10090-10092)atA>atG	p.I3364M	XIRP2_ENST00000295237.9_Missense_Mutation_p.I3364M|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.I3142M|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3189					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACCATAACATACAACAAGAAA	0.363000													66	81					0	0	0.048971	0	0
NCAM2	4685	broad.mit.edu	37	21	22658659	22658659	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr21:22658659C>A	ENST00000400546.1	+	4	657	c.408C>A	c.(406-408)tgC>tgA	p.C136*	NCAM2_ENST00000284894.7_Intron|NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000535285.1_Nonsense_Mutation_p.C161*	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	136	Ig-like C2-type 2.				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)		AAGTGGTTTGCCGAGTTAGCA	0.398000													7	39					0.000157383	0.000165518	0.038147	1	0
KCND2	3751	broad.mit.edu	37	7	119915304	119915304	+	Silent	SNP	A	A	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr7:119915304A>G	ENST00000331113.4	+	1	1583	c.618A>G	c.(616-618)acA>acG	p.T206T		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	206					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TGGTGGAAACAGTGCCGTGCG	0.562000													7	91					0	0	0.006214	0	0
PCDH11X	27328	broad.mit.edu	37	X	91133547	91133547	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chrX:91133547C>G	ENST00000373094.1	+	2	3153	c.2308C>G	c.(2308-2310)Ctg>Gtg	p.L770V	PCDH11X_ENST00000298274.8_Missense_Mutation_p.L770V|PCDH11X_ENST00000361724.1_Missense_Mutation_p.L770V|PCDH11X_ENST00000373088.1_Missense_Mutation_p.L770V|PCDH11X_ENST00000373097.1_Missense_Mutation_p.L770V|PCDH11X_ENST00000504220.1_Missense_Mutation_p.L770V|PCDH11X_ENST00000361655.2_Missense_Mutation_p.L770V|PCDH11X_ENST00000395337.2_Missense_Mutation_p.L770V|PCDH11X_ENST00000406881.1_Missense_Mutation_p.L770V	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	770	Cadherin 7.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AATTGTCAATCTGTTCGTGAA	0.433000													12	119					0	0	0.016723	0	0
PRODH2	58510	broad.mit.edu	37	19	36297721	36297721	+	Silent	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr19:36297721G>T	ENST00000301175.3	-	7	935	c.918C>A	c.(916-918)gcC>gcA	p.A306A		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	306					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCACGTGCTGGGCCCGGGCAT	0.682000													4	14					0.00909568	0.0093068	0.009096	1	0
OR2T6	254879	broad.mit.edu	37	1	248551610	248551610	+	Missense_Mutation	SNP	G	G	A	rs138116574	by1000genomes	TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:248551610G>A	ENST00000355728.2	+	1	701	c.701G>A	c.(700-702)aGg>aAg	p.R234K		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	234					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)			GCTGAAGGGAGGAAGAAGGCC	0.522000													42	114					0	0	0.042209	0	0
AHNAK	79026	broad.mit.edu	37	11	62288267	62288267	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr11:62288267A>G	ENST00000378024.4	-	5	13896	c.13622T>C	c.(13621-13623)gTt>gCt	p.V4541A	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4541					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CAGTTTAGGAACGGAAATGTC	0.423000													14	79					0	0	0.016723	0	0
NPR1	4881	broad.mit.edu	37	1	153660672	153660672	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:153660672C>T	ENST00000368680.3	+	15	2864	c.2392C>T	c.(2392-2394)Cgc>Tgc	p.R798C		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	798	Protein kinase.				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	CCAGCAGATCCGCCTGACGTT	0.607000													8	113					0	0	0.006214	0	0
MACF1	23499	broad.mit.edu	37	1	39782939	39782939	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:39782939G>T	ENST00000564288.1	+	29	4419	c.3642G>T	c.(3640-3642)gaG>gaT	p.E1214D	MACF1_ENST00000545844.1_Missense_Mutation_p.E1219D|MACF1_ENST00000567887.1_Missense_Mutation_p.E1251D|MACF1_ENST00000317713.7_Missense_Mutation_p.E1219D|MACF1_ENST00000372915.3_Missense_Mutation_p.E1219D|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Missense_Mutation_p.E1219D|MACF1_ENST00000361689.2_Missense_Mutation_p.E1219D			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1219					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCCTGGATGAGGAAATTGCCA	0.468000													14	142					1.49906e-05	1.60852e-05	0.020292	1	0
GALNT2	2590	broad.mit.edu	37	1	230371793	230371793	+	Silent	SNP	G	G	T	rs142508727		TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:230371793G>T	ENST00000366672.4	+	4	480	c.408G>T	c.(406-408)ccG>ccT	p.P136P	GALNT2_ENST00000541865.1_Silent_p.P46P|GALNT2_ENST00000543760.1_Silent_p.P98P	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	136	Catalytic subdomain A.				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				TGGATCTGCCGGCCACCAGCG	0.582000													12	23					1.08611e-07	1.21985e-07	0.010729	1	0
LMX1B	4010	broad.mit.edu	37	9	129455846	129455846	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr9:129455846T>C	ENST00000355497.5	+	5	792	c.785T>C	c.(784-786)gTg>gCg	p.V262A	LMX1B_ENST00000373474.4_Missense_Mutation_p.V262A|LMX1B_ENST00000526117.1_Missense_Mutation_p.V262A|LMX1B_ENST00000561065.1_Missense_Mutation_p.V239A|LMX1B_ENST00000425646.2_Missense_Mutation_p.V239A	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	239	Poly-Gln.				dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						AGTGTGCGCGTGGTCCAGGTC	0.642000									Nail-Patella Syndrome				3	36					0	0	0.004672	0	0
VAMP7	6845	broad.mit.edu	37	X	155119183	155119183	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chrX:155119183T>A	ENST00000286448.6	+	2	219	c.54T>A	c.(52-54)caT>caA	p.H18Q	VAMP7_ENST00000262640.6_Missense_Mutation_p.H18Q|VAMP7_ENST00000460621.1_Missense_Mutation_p.H18Q|VAMP7_ENST00000479687.1_3'UTR	NM_001145149.2|NM_005638.5	NP_001138621.1|NP_005629.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	18	Longin.				calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding			large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTGCCAAACATGCTTGGTGTG	0.428000													10	100					0	0	0.008291	0	0
UBR2	23304	broad.mit.edu	37	6	42615858	42615858	+	Silent	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr6:42615858G>A	ENST00000372899.1	+	22	2670	c.2412G>A	c.(2410-2412)gaG>gaA	p.E804E	UBR2_ENST00000372883.3_Silent_p.E308E|UBR2_ENST00000372901.1_Silent_p.E804E	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	804					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			ACCTTTAGGAGAACAAGGAGA	0.368000													17	132					0	0	0.049695	0	0
TIMM44	10469	broad.mit.edu	37	19	7998446	7998446	+	Silent	SNP	C	C	T	rs41539862		TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr19:7998446C>T	ENST00000270538.3	-	7	961	c.693G>A	c.(691-693)ctG>ctA	p.L231L		NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	231					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						GCACGACCCCCAGGGCCTCCC	0.652000													42	185					0	0	0.027894	0	0
MYO18B	84700	broad.mit.edu	37	22	26176070	26176070	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr22:26176070G>A	ENST00000335473.7	+	9	2366	c.2116G>A	c.(2116-2118)Gtg>Atg	p.V706M	MYO18B_ENST00000407587.2_Missense_Mutation_p.V706M|MYO18B_ENST00000536101.1_Missense_Mutation_p.V706M	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	706	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						CTTCGGCTCTGTGTCCATGGC	0.627000													4	5					0	0	0.014758	0	0
PCSK7	9159	broad.mit.edu	37	11	117100204	117100204	+	Silent	SNP	A	A	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr11:117100204A>T	ENST00000320934.3	-	3	987	c.357T>A	c.(355-357)gcT>gcA	p.A119A		NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	119					peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		CAGCCAACACAGCCTCCACCT	0.657000			T	IGH@	MLCLS								7	131					0	0	0.029380	0	0
ABCA5	23461	broad.mit.edu	37	17	67286110	67286110	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr17:67286110C>A	ENST00000392676.3	-	13	1739	c.1675G>T	c.(1675-1677)Ggc>Tgc	p.G559C	ABCA5_ENST00000392677.2_Missense_Mutation_p.G559C|ABCA5_ENST00000588877.1_Missense_Mutation_p.G559C			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	559	ABC transporter 1.				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					GGACAAATGCCAATCATTTTT	0.299000													24	38					1.64293e-13	2.03539e-13	0.018920	1	0
ZNF99	7652	broad.mit.edu	37	19	22939740	22939740	+	Splice_Site	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr19:22939740C>A	ENST00000397104.3	-	6	2590		c.e6+1							zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAAAGCTTTACCACATTCTTC	0.348000													19	32					9.7654e-05	0.000103112	0.043863	1	0
OR52A4P	390053	broad.mit.edu	37	11	5142482	5142482	+	RNA	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr11:5142482G>T	ENST00000498233.1	-	0	916																				breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		CTTGAAATGTGTGGATGAGCC	0.463000													18	24					1.99824e-07	2.23481e-07	0.033300	1	0
KCNC2	3747	broad.mit.edu	37	12	75444443	75444443	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr12:75444443A>T	ENST00000549446.1	-	3	2022	c.1342T>A	c.(1342-1344)Tgg>Agg	p.W448R	KCNC2_ENST00000548513.1_Missense_Mutation_p.W448R|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000298972.1_Missense_Mutation_p.W448R|KCNC2_ENST00000393288.2_Missense_Mutation_p.W448R|KCNC2_ENST00000550433.1_Missense_Mutation_p.W448R|KCNC2_ENST00000341669.3_Missense_Mutation_p.W448R|KCNC2_ENST00000540018.1_Missense_Mutation_p.W448R|KCNC2_ENST00000350228.2_Missense_Mutation_p.W448R	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	448					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						ATGCCTGACCATGTTTGGGGG	0.502000													20	53					0	0	0.049695	0	0
PLEC	5339	broad.mit.edu	37	8	144992757	144992757	+	Silent	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr8:144992757C>A	ENST00000322810.4	-	32	11812	c.11643G>T	c.(11641-11643)gtG>gtT	p.V3881V	PLEC_ENST00000356346.3_Silent_p.V3730V|PLEC_ENST00000354958.2_Silent_p.V3722V|PLEC_ENST00000354589.3_Silent_p.V3744V|PLEC_ENST00000398774.2_Silent_p.V3712V|PLEC_ENST00000357649.2_Silent_p.V3748V|PLEC_ENST00000436759.2_Silent_p.V3771V|PLEC_ENST00000345136.3_Silent_p.V3744V|PLEC_ENST00000527096.1_Silent_p.V3767V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3881	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CAGCCTCATCCACAGTCAGCC	0.701000													32	10					1.74807e-11	2.08272e-11	0.045705	1	0
FCAR	2204	broad.mit.edu	37	19	55396647	55396647	+	Splice_Site	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr19:55396647G>T	ENST00000355524.3	+	3	81	c.70_splice	c.e3-1	p.G24_splice	FCAR_ENST00000353758.4_Intron|FCAR_ENST00000359272.4_Splice_Site_p.G12_splice|FCAR_ENST00000345937.4_Splice_Site_p.G24_splice|FCAR_ENST00000391723.3_Splice_Site_p.G12_splice|FCAR_ENST00000391724.3_Splice_Site_p.G12_splice|FCAR_ENST00000391726.3_Splice_Site_p.G12_splice|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000469767.1_Splice_Site_p.G24_splice|FCAR_ENST00000391725.3_Splice_Site_p.G24_splice	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	24					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		TTTCTTCCAGGGGACTTTCCC	0.488000													13	35					9.31168e-06	1.0094e-05	0.016723	1	0
NEB	4703	broad.mit.edu	37	2	152426637	152426637	+	Silent	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr2:152426637G>A	ENST00000397345.3	-	109	17590	c.17388C>T	c.(17386-17388)aaC>aaT	p.N5796N	NEB_ENST00000172853.10_Silent_p.N4095N|NEB_ENST00000427231.2_Silent_p.N5796N|NEB_ENST00000604864.1_Silent_p.N5796N|NEB_ENST00000409198.1_Silent_p.N4095N|NEB_ENST00000603639.1_Silent_p.N5796N	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	5810					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GAATCACATCGTTCTGGTCGG	0.507000													3	12					0	0	0.004672	0	0
EPB41L3	23136	broad.mit.edu	37	18	5419879	5419879	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr18:5419879G>A	ENST00000540638.2	-	12	1770	c.1391C>T	c.(1390-1392)gCa>gTa	p.A464V	EPB41L3_ENST00000544123.1_Missense_Mutation_p.A464V|EPB41L3_ENST00000342933.3_Intron|EPB41L3_ENST00000341928.2_Intron|EPB41L3_ENST00000400111.3_Missense_Mutation_p.A464V|EPB41L3_ENST00000542652.2_5'UTR			Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	446	Hydrophilic.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						ACCAACCTCTGCAGCAGACAT	0.428000													32	40					0	0	0.023175	0	0
PROKR2	128674	broad.mit.edu	37	20	5283145	5283145	+	Silent	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr20:5283145G>A	ENST00000546004.1	-	3	942	c.696C>T	c.(694-696)ttC>ttT	p.F232F	PROKR2_ENST00000217270.3_Silent_p.F232F			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	232						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CAGGGCCCACGAACTCGACAC	0.557000										HNSCC(71;0.22)			30	102					0	0	0.034045	0	0
GRIN2B	2904	broad.mit.edu	37	12	14018784	14018784	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr12:14018784A>T	ENST00000279593.3	-	2	568	c.359T>A	c.(358-360)cTc>cAc	p.L120H		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	120					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GATGGGGGTGAGAGTCTGTGC	0.552000													12	153					0	0	0.010729	0	0
RXRG	6258	broad.mit.edu	37	1	165370517	165370517	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:165370517G>T	ENST00000359842.5	-	10	1677	c.1375C>A	c.(1375-1377)Ccg>Acg	p.P459T		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	459	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	ATCTGCAGCGGGGTCTCCAAC	0.602000													35	76					1.36161e-19	1.77412e-19	0.019004	1	0
KCNC2	3747	broad.mit.edu	37	12	75444442	75444442	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr12:75444442C>A	ENST00000549446.1	-	3	2023	c.1343G>T	c.(1342-1344)tGg>tTg	p.W448L	KCNC2_ENST00000548513.1_Missense_Mutation_p.W448L|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000298972.1_Missense_Mutation_p.W448L|KCNC2_ENST00000393288.2_Missense_Mutation_p.W448L|KCNC2_ENST00000550433.1_Missense_Mutation_p.W448L|KCNC2_ENST00000341669.3_Missense_Mutation_p.W448L|KCNC2_ENST00000540018.1_Missense_Mutation_p.W448L|KCNC2_ENST00000350228.2_Missense_Mutation_p.W448L	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	448					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.W448L(5)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						CATGCCTGACCATGTTTGGGG	0.507000													20	53					0.000132079	0.000139183	0.049695	1	0
TNR	7143	broad.mit.edu	37	1	175375846	175375846	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:175375846C>A	ENST00000367674.1	-	3	713	c.5G>T	c.(4-6)gGg>gTg	p.G2V	TNR_ENST00000263525.2_Missense_Mutation_p.G2V	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	2					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCCATCTGCCCCCATCCTCTC	0.532000													59	106					9.53615e-21	1.25488e-20	0.048971	1	0
SLC6A9	6536	broad.mit.edu	37	1	44468263	44468263	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:44468263C>T	ENST00000372310.3	-	7	944	c.779G>A	c.(778-780)cGc>cAc	p.R260H	SLC6A9_ENST00000357730.2_Missense_Mutation_p.R279H|SLC6A9_ENST00000537678.1_Missense_Mutation_p.R195H|SLC6A9_ENST00000372306.3_Missense_Mutation_p.R260H|SLC6A9_ENST00000475075.2_Missense_Mutation_p.R149H|SLC6A9_ENST00000372307.3_Missense_Mutation_p.R195H|SLC6A9_ENST00000360584.2_Missense_Mutation_p.R333H	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	333						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GGTCACTCCGCGGACAAACAG	0.602000													45	300					0	0	0.039052	0	0
GGT3P	2679	broad.mit.edu	37	22	18778601	18778601	+	RNA	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr22:18778601C>T	ENST00000412448.1	-	0	804																											GCTTGGCATCCGCGGCCACGG	0.627000													7	11					0	0	0.029380	0	0
HMGCR	3156	broad.mit.edu	37	5	74656147	74656147	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr5:74656147T>C	ENST00000287936.4	+	20	2803	c.2647T>C	c.(2647-2649)Tgc>Cgc	p.C883R	HMGCR_ENST00000343975.5_Missense_Mutation_p.C830R|HMGCR_ENST00000511206.1_Missense_Mutation_p.C883R	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	883	Catalytic.				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CCAAGGAGCTTGCACCAAGAA	0.378000													11	6					0	0	0.024245	0	0
TRBV7-1	28597	broad.mit.edu	37	7	142032451	142032451	+	RNA	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr7:142032451G>T	ENST00000547918.2	+	0	304																											GAGGTCTGAGGGATCCATCTC	0.572000													17	27					2.48551e-13	3.06488e-13	0.033300	1	0
TNFRSF19	55504	broad.mit.edu	37	13	24243246	24243246	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr13:24243246C>T	ENST00000382258.4	+	9	1459	c.1255C>T	c.(1255-1257)Cga>Tga	p.R419*	TNFRSF19_ENST00000403372.2_Intron|TNFRSF19_ENST00000248484.4_Intron|TNFRSF19_ENST00000382263.3_Intron	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	419					apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		GGTAAGGCAGCGACTGGGTTC	0.493000													7	50					0	0	0.029380	0	0
WNT1	7471	broad.mit.edu	37	12	49373420	49373420	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr12:49373420G>C	ENST00000293549.3	+	2	310	c.274G>C	c.(274-276)Gag>Cag	p.E92Q		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	92					brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		TGCCGTGCGCGAGTGCAAGTG	0.642000													4	91					0	0	0.014758	0	0
FOLR1	2348	broad.mit.edu	37	11	71906378	71906378	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr11:71906378G>A	ENST00000393679.1	+	3	668	c.232G>A	c.(232-234)Gtt>Att	p.V78I	FOLR1_ENST00000393676.3_Missense_Mutation_p.V78I|FOLR1_ENST00000393681.2_Missense_Mutation_p.V78I|FOLR1_ENST00000312293.4_Missense_Mutation_p.V78I|RP11-807H22.7_ENST00000378140.3_RNA			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	78					cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						CCATAAGGATGTTTCCTACCT	0.542000													99	183					0	0	0.048971	0	0
OR5D14	219436	broad.mit.edu	37	11	55563767	55563767	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr11:55563767C>A	ENST00000335605.1	+	1	736	c.736C>A	c.(736-738)Cac>Aac	p.H246N		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				CTGGGCCTCCCACCTGACTTC	0.458000													20	102					3.10358e-05	3.31676e-05	0.014323	1	0
OR8A1	390275	broad.mit.edu	37	11	124440190	124440190	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr11:124440190A>T	ENST00000284287.3	+	1	298	c.226A>T	c.(226-228)Atg>Ttg	p.M76L		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		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;0.0214)		GCACACCCCCATGTACTACTT	0.488000													7	212					0	0	0.029380	0	0
NEB	4703	broad.mit.edu	37	2	152518738	152518738	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr2:152518738G>T	ENST00000397345.3	-	46	6083	c.5881C>A	c.(5881-5883)Cgc>Agc	p.R1961S	NEB_ENST00000172853.10_Missense_Mutation_p.R1961S|NEB_ENST00000427231.2_Missense_Mutation_p.R1961S|NEB_ENST00000604864.1_Missense_Mutation_p.R1961S|NEB_ENST00000409198.1_Missense_Mutation_p.R1961S|NEB_ENST00000603639.1_Missense_Mutation_p.R1961S	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	1961					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGGTGCTGGCGGTACTTCTTT	0.443000													31	46					2.85442e-18	3.68289e-18	0.045705	1	0
OR2A25	392138	broad.mit.edu	37	7	143771818	143771818	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr7:143771818G>T	ENST00000408898.2	+	1	544	c.506G>T	c.(505-507)gGa>gTa	p.G169V		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TCCTTCTGTGGACCCCAGAAA	0.448000													94	151					4.21487e-37	5.85215e-37	0.048971	1	0
TULP2	7288	broad.mit.edu	37	19	49387296	49387296	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr19:49387296C>A	ENST00000221399.3	-	10	1213	c.1069G>T	c.(1069-1071)Gtc>Ttc	p.V357F		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	357					visual perception	cytoplasm|extracellular region				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		GTGCTGAAGACATTGGATCTG	0.478000													28	42					4.7796e-09	5.50852e-09	0.024334	1	0
MS4A5	64232	broad.mit.edu	37	11	60215127	60215127	+	Silent	SNP	T	T	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr11:60215127T>A	ENST00000300190.2	+	5	584	c.498T>A	c.(496-498)atT>atA	p.I166I		NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	166						integral to membrane	receptor activity			large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						TACAGGGAATTTTGATTACAT	0.343000													16	81					0	0	0.028581	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558379	140558379	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr5:140558379A>G	ENST00000239444.2	+	1	1009	c.764A>G	c.(763-765)gAc>gGc	p.D255G		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		255	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATCTCTGAGGACAGTCCAATA	0.473000													39	398					0	0	0.023175	0	0
EXOC3L1	283849	broad.mit.edu	37	16	67220756	67220756	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr16:67220756A>T	ENST00000314586.6	-	7	1430	c.1190T>A	c.(1189-1191)cTg>cAg	p.L397Q		NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	397					exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						CTCCCCATCCAGTGCATTCTG	0.597000													50	44					0	0	0.048971	0	0
MROH2B	133558	broad.mit.edu	37	5	41065491	41065491	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr5:41065491G>C	ENST00000399564.4	-	4	753	c.303C>G	c.(301-303)atC>atG	p.I101M		NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GTAGCTCTAAGATCCTGAAGT	0.433000													34	49					0	0	0.050027	0	0
AKAP13	11214	broad.mit.edu	37	15	86123274	86123274	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr15:86123274G>A	ENST00000394518.2	+	7	2070	c.1975G>A	c.(1975-1977)Gat>Aat	p.D659N	AKAP13_ENST00000361243.2_Missense_Mutation_p.D659N|RP11-815J21.2_ENST00000561409.1_RNA	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	659					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AACTGGAGACGATAAACTTTG	0.428000													29	122					0	0	0.045705	0	0
DGKG	1608	broad.mit.edu	37	3	185906032	185906032	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr3:185906032T>A	ENST00000265022.3	-	22	2593	c.2054A>T	c.(2053-2055)aAg>aTg	p.K685M	DGKG_ENST00000344484.4_Missense_Mutation_p.K660M|DGKG_ENST00000382164.4_Missense_Mutation_p.K646M|DGKG_ENST00000544847.1_Missense_Mutation_p.K626M	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	685					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	AGTGACACCCTTCCTGCTTTC	0.502000													9	253					0	0	0.006214	0	0
IFT74	80173	broad.mit.edu	37	9	27062638	27062638	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr9:27062638G>T	ENST00000443698.1	+	20	1878	c.1707G>T	c.(1705-1707)gaG>gaT	p.E569D	IFT74_ENST00000380062.5_Missense_Mutation_p.E569D|IFT74_ENST00000433700.1_Missense_Mutation_p.E569D	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74 homolog (Chlamydomonas)	569						cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		AGAGTCAAGAGAGTGATTACC	0.373000													24	48					4.47668e-21	5.92041e-21	0.021523	1	0
GPR128	84873	broad.mit.edu	37	3	100387877	100387877	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr3:100387877C>A	ENST00000273352.3	+	15	2332	c.2064C>A	c.(2062-2064)taC>taA	p.Y688*	GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Nonsense_Mutation_p.Y393*	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	688					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TTCTAGCATACCTGATGCTAG	0.383000													31	55					3.73148e-12	4.49647e-12	0.034045	1	0
ZNF239	8187	broad.mit.edu	37	10	44052824	44052824	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr10:44052824T>C	ENST00000306006.6	-	2	1356	c.704A>G	c.(703-705)tAc>tGc	p.Y235C	ZNF239_ENST00000374446.2_Missense_Mutation_p.Y235C|ZNF239_ENST00000535642.1_Missense_Mutation_p.Y235C|ZNF239_ENST00000426961.1_Missense_Mutation_p.Y235C	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CTCACATTTGTAGGGTTTTTC	0.448000													54	99					0	0	0.048971	0	0
RPP38	10557	broad.mit.edu	37	10	15145923	15145923	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr10:15145923A>T	ENST00000378197.4	+	3	1124	c.610A>T	c.(610-612)Agt>Tgt	p.S204C	NMT2_ENST00000466201.1_Intron|RPP38_ENST00000378202.5_Missense_Mutation_p.S204C|RPP38_ENST00000451677.1_Intron	NM_183005.4	NP_892117.1	P78345	RPP38_HUMAN	ribonuclease P/MRP 38kDa subunit	204					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)	8						CCCCAGTTTAAGTGTACCATG	0.438000													4	68					0	0	0.009096	0	0
HNRNPL	3191	broad.mit.edu	37	19	39328054	39328054	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr19:39328054A>T	ENST00000221419.5	-	12	2047	c.1681T>A	c.(1681-1683)Ttc>Atc	p.F561I	HNRNPL_ENST00000600873.1_Missense_Mutation_p.F428I|AC104534.3_ENST00000594769.1_Silent_p.A177A	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	561					nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			TGGTTCAGGAAGCCCAGAGTC	0.522000													29	56					0	0	0.041601	0	0
SPEF2	79925	broad.mit.edu	37	5	35776363	35776363	+	Silent	SNP	A	A	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr5:35776363A>T	ENST00000440995.2	+	29	4068	c.4068A>T	c.(4066-4068)atA>atT	p.I1356I	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Silent_p.I1361I			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1361					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)			AAATAGAAATAGCCACGCAAT	0.328000													45	77					0	0	0.042209	0	0
CUL9	23113	broad.mit.edu	37	6	43167690	43167690	+	Silent	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr6:43167690C>T	ENST00000252050.4	+	14	3264	c.3180C>T	c.(3178-3180)ttC>ttT	p.F1060F	CUL9_ENST00000354495.3_Silent_p.F950F|CUL9_ENST00000372647.2_Silent_p.F1060F	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1060					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TGACCTGCTTCCTACATCGCC	0.502000													39	41					0	0	0.025465	0	0
LOC101929006	101929006	broad.mit.edu	37	6	29231743	29231743	+	RNA	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr6:29231743C>G	ENST00000441381.1	+	0	214																		p.M38I(1)									CCATATTTCCCATCAAAGAAA	0.418000													5	153					0	0	0.021553	0	0
ADAM29	11086	broad.mit.edu	37	4	175898232	175898232	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr4:175898232C>A	ENST00000359240.3	+	5	2226	c.1556C>A	c.(1555-1557)aCt>aAt	p.T519N	ADAM29_ENST00000445694.1_Missense_Mutation_p.T519N|ADAM29_ENST00000514159.1_Missense_Mutation_p.T519N|ADAM29_ENST00000404450.4_Missense_Mutation_p.T519N	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	519	Cys-rich.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GCAAGTGAGACTTGCTACAAA	0.438000													9	76					3.09899e-07	3.45129e-07	0.047766	1	0
MLEC	9761	broad.mit.edu	37	12	121131987	121131987	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr12:121131987G>T	ENST00000228506.3	+	2	757	c.329G>T	c.(328-330)gGc>gTc	p.G110V	MLEC_ENST00000412616.2_Missense_Mutation_p.G110V	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	110					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						GAGACCTTTGGCTACGAAGTG	0.517000													38	46					1.67305e-13	2.06786e-13	0.025465	1	0
GATA1	2623	broad.mit.edu	37	X	48650830	48650830	+	Silent	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chrX:48650830G>A	ENST00000376670.3	+	4	810	c.699G>A	c.(697-699)aaG>aaA	p.K233K	GATA1_ENST00000376665.3_Silent_p.K233K	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	233					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						TCTATCACAAGATGAATGGGC	0.592000			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome								4	30					0	0	0.014758	0	0
OR5AK2	390181	broad.mit.edu	37	11	56757206	56757206	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr11:56757206T>A	ENST00000326855.2	+	1	860	c.818T>A	c.(817-819)gTg>gAg	p.V273E		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						AATATGAAAGTGGCCTTTATA	0.358000													13	68					0	0	0.013537	0	0
MYO1A	4640	broad.mit.edu	37	12	57440397	57440397	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr12:57440397T>A	ENST00000442789.2	-	9	866	c.579A>T	c.(577-579)aaA>aaT	p.K193N	MYO1A_ENST00000300119.3_Missense_Mutation_p.K193N|MYO1A_ENST00000544473.1_Missense_Mutation_p.K31N	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	193	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TCCTTTCTCCTTTGAGCTGCT	0.493000													48	70					0	0	0.048971	0	0
ATP6V1B1	525	broad.mit.edu	37	2	71185490	71185490	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr2:71185490G>T	ENST00000234396.4	+	4	374	c.301G>T	c.(301-303)Gcc>Tcc	p.A101S	AC007040.11_ENST00000606025.1_Intron|ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.A101S	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	101					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						AGGGATCGATGCCAGGAAGAC	0.582000													26	40					3.6726e-16	4.63677e-16	0.021523	1	0
C2CD3	26005	broad.mit.edu	37	11	73765701	73765701	+	Silent	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr11:73765701C>A	ENST00000334126.7	-	26	5332	c.5106G>T	c.(5104-5106)ctG>ctT	p.L1702L	C2CD3_ENST00000313663.7_Silent_p.L1702L			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1702	C2 2.					centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GGTCCAGAAGCAGCTCTTTTG	0.333000													40	123					6.99958e-10	8.1739e-10	0.027894	1	0
CHD9	80205	broad.mit.edu	37	16	53357965	53357965	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr16:53357965C>G	ENST00000566029.1	+	39	8013	c.7804C>G	c.(7804-7806)Ctc>Gtc	p.L2602V	CHD9_ENST00000398510.3_Missense_Mutation_p.L2618V|CHD9_ENST00000564845.1_Missense_Mutation_p.L2602V|CHD9_ENST00000447540.1_Missense_Mutation_p.L2603V			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2618					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TGAACGTATTCTCACTGGTCC	0.428000													4	79					0	0	0.009096	0	0
ARL13B	200894	broad.mit.edu	37	3	93754267	93754267	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr3:93754267G>T	ENST00000535334.1	+	3	687	c.164G>T	c.(163-165)tGc>tTc	p.C55F	ARL13B_ENST00000303097.7_Missense_Mutation_p.C51F|ARL13B_ENST00000394222.3_Missense_Mutation_p.C158F|ARL13B_ENST00000486562.1_3'UTR|ARL13B_ENST00000539730.1_5'UTR|ARL13B_ENST00000471138.1_Missense_Mutation_p.C158F	NM_001174151.1	NP_001167622.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	158							GTP binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						GAGCACAAGTGCCTGTGTCAG	0.308000													38	66					4.14481e-20	5.42724e-20	0.025465	1	0
CHAF1A	10036	broad.mit.edu	37	19	4408903	4408903	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr19:4408903G>T	ENST00000301280.5	+	3	208	c.107G>T	c.(106-108)cGt>cTt	p.R36L		NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	36	Binds to CBX1 chromo shadow domain.|Binds to PCNA.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GTTTCAGCCCGTCTGCCGTTT	0.463000								Chromatin Structure					78	38					4.01556e-35	5.5463e-35	0.048971	1	0
CD109	135228	broad.mit.edu	37	6	74519732	74519732	+	Silent	SNP	A	A	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr6:74519732A>T	ENST00000437994.2	+	27	3812	c.3381A>T	c.(3379-3381)tcA>tcT	p.S1127S	CD109_ENST00000422508.2_Silent_p.S1050S|CD109_ENST00000287097.5_Silent_p.S1127S	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	1127						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGGTGTCATCAGAGTCCAAAC	0.403000													14	30					0	0	0.033300	0	0
CEP57L1	285753	broad.mit.edu	37	6	109471323	109471323	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr6:109471323A>G	ENST00000407272.1	+	6	920	c.343A>G	c.(343-345)Ata>Gta	p.I115V	CEP57L1_ENST00000359793.3_Missense_Mutation_p.I115V|CEP57L1_ENST00000336977.4_Intron|CEP57L1_ENST00000520883.1_Intron|CEP57L1_ENST00000521277.1_Intron|CEP57L1_ENST00000368968.2_Missense_Mutation_p.I115V|CEP57L1_ENST00000521522.1_Missense_Mutation_p.I115V|CEP57L1_ENST00000523787.1_Missense_Mutation_p.I118V|CEP57L1_ENST00000517392.1_Missense_Mutation_p.I115V|CEP57L1_ENST00000368970.2_Missense_Mutation_p.I115V|CEP57L1_ENST00000519095.1_Missense_Mutation_p.I115V	NM_001083535.1	NP_001077004.1	Q8IYX8	CE57L_HUMAN	centrosomal protein 57kDa-like 1	115						microtubule|microtubule organizing center				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						tttcATAGATATAAGTATACA	0.368000													20	40					0	0	0.049695	0	0
CDC16	8881	broad.mit.edu	37	13	115037765	115037765	+	Silent	SNP	A	A	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr13:115037765A>G	ENST00000360383.3	+	18	1908	c.1710A>G	c.(1708-1710)gtA>gtG	p.V570V	CDC16_ENST00000356221.3_Silent_p.V570V|CDC16_ENST00000375308.1_Silent_p.V476V|CDC16_ENST00000375312.3_Silent_p.V425V|CDC16_ENST00000461716.1_3'UTR|CDC16_ENST00000252458.6_Silent_p.V425V|CDC16_ENST00000252457.5_Silent_p.V569V|CDC16_ENST00000375310.1_Silent_p.V476V	NM_001078645.1|NM_003903.3	NP_001072113.1|NP_003894.3	Q13042	CDC16_HUMAN	cell division cycle 16	570					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding			endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			AATTTGAAGTAGAAAAACAGA	0.368000													4	72					0	0	0.014758	0	0
OR2M3	127062	broad.mit.edu	37	1	248366781	248366781	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:248366781C>T	ENST00000456743.1	+	1	450	c.412C>T	c.(412-414)Cct>Tct	p.P138S		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-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)			TCTCATGAGCCCTAAAATTTG	0.453000													129	351					0	0	0.048971	0	0
FRMPD1	22844	broad.mit.edu	37	9	37732366	37732366	+	Silent	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr9:37732366C>A	ENST00000539465.1	+	10	1517	c.924C>A	c.(922-924)ctC>ctA	p.L308L	FRMPD1_ENST00000377765.3_Silent_p.L308L|FRMPD1_ENST00000536622.1_Silent_p.L130L|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000541302.1_Silent_p.L177L			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	308	FERM.					cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CACTCCGACTCGCGGCTCTGC	0.502000													29	24					4.2108e-06	4.58336e-06	0.041601	1	0
OR5H15	403274	broad.mit.edu	37	3	97888076	97888076	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr3:97888076A>T	ENST00000356526.2	+	1	533	c.533A>T	c.(532-534)tAc>tTc	p.Y178F		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						CATCACATTTACTGTGACACT	0.308000													15	38					0	0	0.014323	0	0
LAMA4	3910	broad.mit.edu	37	6	112496574	112496574	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr6:112496574C>G	ENST00000230538.7	-	11	1695	c.1298G>C	c.(1297-1299)cGt>cCt	p.R433P	LAMA4_ENST00000424408.2_Missense_Mutation_p.R426P|LAMA4_ENST00000389463.4_Missense_Mutation_p.R426P|LAMA4_ENST00000522006.1_Missense_Mutation_p.R426P	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	433	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	p.R426H(1)|p.R426L(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AAATGGTTGACGGCTTCTAAT	0.488000													42	113					0	0	0.036044	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882629	228882629	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr2:228882629T>C	ENST00000392056.3	-	7	2987	c.2941A>G	c.(2941-2943)Agg>Ggg	p.R981G	SPHKAP_ENST00000344657.5_Missense_Mutation_p.R981G	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	981						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCTTTCTTCCTCTTCAAGGAT	0.537000													9	103					0	0	0.047766	0	0
ITIH6	347365	broad.mit.edu	37	X	54784369	54784369	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chrX:54784369G>T	ENST00000218436.6	-	8	2167	c.2138C>A	c.(2137-2139)tCt>tAt	p.S713Y		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	713					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										CAAGGTGCCAGAATCCTGTTG	0.512000													62	24					1.55088e-19	2.01577e-19	0.048971	1	0
RTN2	6253	broad.mit.edu	37	19	45998025	45998025	+	Silent	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr19:45998025G>T	ENST00000245923.4	-	3	553	c.318C>A	c.(316-318)ggC>ggA	p.G106G	RTN2_ENST00000589384.1_5'UTR|RTN2_ENST00000344680.4_Silent_p.G106G|PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000590526.1_5'UTR	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	106						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		CCAAGCTGTCGCCCAGGCTGG	0.711000													28	56					3.73808e-20	4.90681e-20	0.027356	1	0
SELO	83642	broad.mit.edu	37	22	50655559	50655559	+	Splice_Site	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr22:50655559C>T	ENST00000380903.2	+	8	1903		c.e8+2		RP3-402G11.5_ENST00000492092.1_Splice_Site	NM_031454.1	NP_113642.1																					TTCTCAGAGGCAAGCACACGC	0.647000													8	57					0	0	0.038147	0	0
ASXL1	171023	broad.mit.edu	37	20	31022464	31022464	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr20:31022464G>A	ENST00000375687.4	+	13	2373	c.1949G>A	c.(1948-1950)gGt>gAt	p.G650D	ASXL1_ENST00000306058.5_Missense_Mutation_p.G645D	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	650	Gly-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.T639_G659>PPWD(1)|p.A640_S664>PCSGG(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CCGGGTGGAGGTGGCGGCGGG	0.701000			"""F, N, Mis"""		"""MDS, CMML"""								8	10					0	0	0.047766	0	0
FNDC9	408263	broad.mit.edu	37	5	156769922	156769922	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr5:156769922A>G	ENST00000312349.4	-	2	810	c.623T>C	c.(622-624)tTa>tCa	p.L208S	CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000318218.6_Intron	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9	208						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						CCCCCTCTGTAAGGCACCCGC	0.602000											OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	18					0	0	0.021523	0	0
GPR124	25960	broad.mit.edu	37	8	37672447	37672447	+	Silent	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr8:37672447C>T	ENST00000315215.7	+	2	663	c.300C>T	c.(298-300)cgC>cgT	p.R100R	GPR124_ENST00000412232.2_Silent_p.R100R			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	100					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CGGGGCTCCGCAATGGCTCCT	0.582000													109	102					0	0	0.048971	0	0
AGMO	392636	broad.mit.edu	37	7	15427033	15427033	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr7:15427033C>T	ENST00000342526.3	-	9	1124	c.955G>A	c.(955-957)Gag>Aag	p.E319K		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	319					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						CTATTTACCTCTGGAATTTCT	0.433000													40	116					0	0	0.036044	0	0
HSPD1	3329	broad.mit.edu	37	2	198352698	198352698	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr2:198352698C>T	ENST00000388968.3	-	11	1720	c.1453G>A	c.(1453-1455)Gtt>Att	p.V485I	HSPD1_ENST00000345042.2_Missense_Mutation_p.V485I	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	485					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			GATCCTTCAACACCTGCATTC	0.323000													4	21					0	0	0.009096	0	0
GRIK2	2898	broad.mit.edu	37	6	102483225	102483225	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr6:102483225A>C	ENST00000369138.1	+	14	2585	c.2095A>C	c.(2095-2097)Atc>Ctc	p.I699L	GRIK2_ENST00000369137.3_Missense_Mutation_p.I623L|GRIK2_ENST00000369134.4_Missense_Mutation_p.I650L|GRIK2_ENST00000413795.1_Missense_Mutation_p.I699L|GRIK2_ENST00000318991.6_Missense_Mutation_p.I699L|GRIK2_ENST00000421544.1_Missense_Mutation_p.I699L	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	699					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GAAATCAAAAATCTCCACGTA	0.378000													34	50					0	0	0.054565	0	0
CALCR	799	broad.mit.edu	37	7	93055685	93055685	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr7:93055685G>T	ENST00000359558.2	-	16	1809	c.1510C>A	c.(1510-1512)Caa>Aaa	p.Q504K	CALCR_ENST00000360249.4_Missense_Mutation_p.Q486K|CALCR_ENST00000426151.1_Missense_Mutation_p.Q470K|CALCR_ENST00000394441.1_Missense_Mutation_p.Q470K|CALCR_ENST00000421592.1_Missense_Mutation_p.Q486K	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	486					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	GATGACTCTTGCTCTATGATA	0.458000													56	106					2.47907e-22	3.28678e-22	0.048971	1	0
HSP90B1	7184	broad.mit.edu	37	12	104336952	104336952	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr12:104336952A>G	ENST00000299767.5	+	13	1927	c.1745A>G	c.(1744-1746)gAa>gGa	p.E582G		NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	582					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	GCCCTTCCCGAATTTGATGGG	0.423000													12	112					0	0	0.010729	0	0
EPC2	26122	broad.mit.edu	37	2	149526787	149526787	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr2:149526787G>T	ENST00000258484.6	+	8	1242	c.1208G>T	c.(1207-1209)cGg>cTg	p.R403L		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	403					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		TTCAGAAGGCGGGCAGGATGC	0.423000													11	7					2.27111e-07	2.53464e-07	0.013537	1	0
ZNF658	26149	broad.mit.edu	37	9	40772406	40772406	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr9:40772406G>C	ENST00000602553.1	-	5	3163	c.2869C>G	c.(2869-2871)Caa>Gaa	p.Q957E	ZNF658_ENST00000441795.1_Intron|ZNF658_ENST00000377626.3_Missense_Mutation_p.Q957E			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	957					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TGAATTCTTTGATGTACTCTG	0.428000													4	153					0	0	0.021553	0	0
UNC13C	440279	broad.mit.edu	37	15	54307573	54307573	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr15:54307573A>C	ENST00000545554.1	+	1	2473	c.2473A>C	c.(2473-2475)Agt>Cgt	p.S825R	UNC13C_ENST00000260323.11_Missense_Mutation_p.S825R|UNC13C_ENST00000537900.1_Missense_Mutation_p.S825R			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	825					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GTATGAGGACAGTGGCTCTTC	0.438000													10	23					0	0	0.008291	0	0
MAGI1	9223	broad.mit.edu	37	3	65367574	65367574	+	Silent	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr3:65367574C>T	ENST00000330909.8	-	17	2762	c.2763G>A	c.(2761-2763)gtG>gtA	p.V921V	MAGI1_ENST00000402939.2_Silent_p.V893V|MAGI1_ENST00000497477.2_Silent_p.V893V|MAGI1_ENST00000483466.1_Silent_p.V921V	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	921					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CTTTACGCCGCACCGTGAGAT	0.483000													23	26					0	0	0.012319	0	0
KMT2D	8085	broad.mit.edu	37	12	49442514	49442514	+	Silent	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr12:49442514C>T	ENST00000301067.7	-	13	4058	c.4059G>A	c.(4057-4059)gaG>gaA	p.E1353E		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CATCTTCTTCCTCCTCCTCCT	0.483000													32	240					0	0	0.041601	0	0
VPS41	27072	broad.mit.edu	37	7	38785205	38785205	+	Silent	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr7:38785205C>T	ENST00000310301.4	-	23	1989	c.1935G>A	c.(1933-1935)gaG>gaA	p.E645E	VPS41_ENST00000395969.2_Silent_p.E620E	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	645					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						GTTGACAGATCTCAAGAGCCT	0.328000													64	94					0	0	0.048971	0	0
AIDA	64853	broad.mit.edu	37	1	222846694	222846694	+	Missense_Mutation	SNP	C	C	G	rs138435242		TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:222846694C>G	ENST00000340020.6	-	8	873	c.667G>C	c.(667-669)Gac>Cac	p.D223H	AIDA_ENST00000355727.2_Intron|AIDA_ENST00000541237.1_Missense_Mutation_p.D199H|AIDA_ENST00000474863.1_5'UTR	NM_022831.2	NP_073742.2	Q96BJ3	AIDA_HUMAN	axin interactor, dorsalization associated	223					dorsal/ventral pattern formation|negative regulation of JNK cascade|negative regulation of JUN kinase activity|regulation of protein homodimerization activity					kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						AGCTCAATGTCCACATTAAAA	0.338000													5	42					0	0	0.014758	0	0
FSIP2	401024	broad.mit.edu	37	2	186692902	186692902	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr2:186692902G>T	ENST00000343098.5	+	21	20760	c.20760G>T	c.(20758-20760)aaG>aaT	p.K6920N	FSIP2_ENST00000424728.1_Missense_Mutation_p.K6831N	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AGGAACAAAAGCCAGAGCATG	0.313000													8	63					1.26484e-09	1.46733e-09	0.038147	1	0
OR10G8	219869	broad.mit.edu	37	11	123900413	123900413	+	Silent	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr11:123900413C>T	ENST00000431524.1	+	1	117	c.84C>T	c.(82-84)gtC>gtT	p.V28V		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		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;0.0521)		TCTTTGGAGTCTTCCTGGTGG	0.572000													81	158					0	0	0.048971	0	0
PARP1	142	broad.mit.edu	37	1	226553750	226553750	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:226553750C>A	ENST00000366794.5	-	18	2553	c.2410G>T	c.(2410-2412)Gtt>Ttt	p.V804F	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	804	PARP catalytic.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TCTCTGTCAACCACCTGGATA	0.453000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					13	38					2.68362e-12	3.24118e-12	0.013537	1	0
AIM1	202	broad.mit.edu	37	6	106992709	106992709	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr6:106992709G>T	ENST00000369066.3	+	11	4476	c.3989G>T	c.(3988-3990)gGa>gTa	p.G1330V	AIM1_ENST00000535438.1_Missense_Mutation_p.G149V|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													41	47					7.53189e-24	1.0087e-23	0.030466	1	0
APBA2	321	broad.mit.edu	37	15	29346360	29346360	+	Silent	SNP	T	T	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr15:29346360T>A	ENST00000558402.1	+	5	872	c.273T>A	c.(271-273)ccT>ccA	p.P91P	APBA2_ENST00000411764.1_Silent_p.P91P|APBA2_ENST00000561069.1_Silent_p.P91P|APBA2_ENST00000558330.1_Silent_p.P91P|APBA2_ENST00000558259.1_Silent_p.P91P			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	91					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		AGGGCCTCCCTGAGGAGGAGG	0.602000													66	64					0	0	0.048971	0	0
KPRP	448834	broad.mit.edu	37	1	152733152	152733152	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:152733152G>A	ENST00000368773.1	+	2	1146	c.1088G>A	c.(1087-1089)tGg>tAg	p.W363*	KPRP_ENST00000606109.1_Nonsense_Mutation_p.W363*	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	363	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGCCCTCCTGGGGCGCCTCC	0.657000													38	68					0	0	0.030466	0	0
LIPT1	51601	broad.mit.edu	37	2	99778833	99778833	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr2:99778833A>G	ENST00000393477.3	+	4	765	c.413A>G	c.(412-414)aAt>aGt	p.N138S	MRPL30_ENST00000410042.1_Intron|LIPT1_ENST00000393471.2_Missense_Mutation_p.N138S|LIPT1_ENST00000393473.2_Missense_Mutation_p.N138S|LIPT1_ENST00000393474.3_Missense_Mutation_p.N138S|LIPT1_ENST00000340066.1_Missense_Mutation_p.N138S	NM_145197.2	NP_660198.1	Q9Y234	LIPT_HUMAN	lipoyltransferase 1	138					lipid metabolic process|protein lipoylation	mitochondrion	acyltransferase activity			large_intestine(6)|lung(1)	7					Lipoic Acid(DB00166)	AGAGCTCTGAATGCTGTCCAA	0.383000													40	63					0	0	0.023175	0	0
OR10G8	219869	broad.mit.edu	37	11	123900428	123900428	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr11:123900428C>A	ENST00000431524.1	+	1	132	c.99C>A	c.(97-99)taC>taA	p.Y33*		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		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;0.0521)		TGGTGGTTTACGTGCTCACTG	0.572000													70	168					2.26907e-38	3.15878e-38	0.048971	1	0
SLFN12L	100506736	broad.mit.edu	37	17	33802328	33802328	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr17:33802328A>C	ENST00000260908.7	-	4	1498	c.1381T>G	c.(1381-1383)Tgt>Ggt	p.C461G	SLFN12L_ENST00000449046.1_Missense_Mutation_p.C492G|SLFN12L_ENST00000361112.4_Missense_Mutation_p.C490G	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	493						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						AGAGCATCACAGAGGACTTTG	0.453000													23	48					0	0	0.012319	0	0
TAF3	83860	broad.mit.edu	37	10	8007078	8007078	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr10:8007078G>C	ENST00000344293.5	+	3	1811	c.1605G>C	c.(1603-1605)aaG>aaC	p.K535N		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	535	Lys-rich.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						AAATgaaaaagaaagaaaagc	0.403000													7	38					0	0	0.029380	0	0
MYH8	4626	broad.mit.edu	37	17	10309661	10309661	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr17:10309661T>C	ENST00000403437.2	-	20	2319	c.2225A>G	c.(2224-2226)aAg>aGg	p.K742R	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	742	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AGAAGCCTTCTTGCTGTCAAT	0.348000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				31	25					0	0	0.037714	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14851635	14851635	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr18:14851635A>C	ENST00000358984.4	+	36	3515	c.3335A>C	c.(3334-3336)tAc>tCc	p.Y1112S		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1197										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GAAAATAAATACTTTGAGGAC	0.343000													18	26					0	0	0.014323	0	0
TRDN	10345	broad.mit.edu	37	6	123957920	123957920	+	Translation_Start_Site	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr6:123957920T>C	ENST00000334268.4	-	1	318	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	TRDN_ENST00000542443.1_Start_Codon_SNP_p.M1V|TRDN_ENST00000398178.3_Start_Codon_SNP_p.M1V|TRDN_ENST00000546248.1_Start_Codon_SNP_p.M1V			Q13061	TRDN_HUMAN	triadin	1					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)		ATCTCAGTCATGGTGGTCGTC	0.413000													36	34					0	0	0.019004	0	0
PDZD3	79849	broad.mit.edu	37	11	119060200	119060200	+	Nonstop_Mutation	SNP	A	A	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr11:119060200A>G	ENST00000531114.1	+	9	2264	c.1715A>G	c.(1714-1716)tAg>tGg	p.*572W	PDZD3_ENST00000525131.1_Nonstop_Mutation_p.*493W|PDZD3_ENST00000322712.4_Nonstop_Mutation_p.*492W|PDZD3_ENST00000392817.2_Nonstop_Mutation_p.*572W|PDZD3_ENST00000355547.5_Nonstop_Mutation_p.*506W			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	0					cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		GATCTACTGTAGAGCACCCCT	0.557000													55	90					0	0	0.048971	0	0
VPS13C	54832	broad.mit.edu	37	15	62209817	62209817	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr15:62209817T>A	ENST00000261517.5	-	60	7851	c.7778A>T	c.(7777-7779)cAg>cTg	p.Q2593L	VPS13C_ENST00000395898.3_Missense_Mutation_p.Q2550L|VPS13C_ENST00000249837.3_Missense_Mutation_p.Q2550L|VPS13C_ENST00000395896.4_Missense_Mutation_p.Q2593L	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2593					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCCAGCTGGCTGGATAAACAA	0.383000													25	14					0	0	0.021523	0	0
HELZ	9931	broad.mit.edu	37	17	65103364	65103364	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr17:65103364T>G	ENST00000358691.5	-	31	5328	c.5162A>C	c.(5161-5163)cAa>cCa	p.Q1721P	HELZ_ENST00000580168.1_Missense_Mutation_p.Q1722P	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AATAGCATGTTGATGATTCTG	0.448000													95	143					0	0	0.048971	0	0
VRK3	51231	broad.mit.edu	37	19	50510959	50510959	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr19:50510959C>G	ENST00000599538.1	-	5	1078	c.414G>C	c.(412-414)caG>caC	p.Q138H	VRK3_ENST00000377011.2_Missense_Mutation_p.Q88H|VRK3_ENST00000594092.1_Missense_Mutation_p.Q138H|VRK3_ENST00000594948.1_Missense_Mutation_p.Q138H|VRK3_ENST00000443401.2_5'UTR|VRK3_ENST00000316763.3_Missense_Mutation_p.Q138H|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000601912.1_Missense_Mutation_p.Q88H|VRK3_ENST00000593919.1_Missense_Mutation_p.Q138H|VRK3_ENST00000601341.1_Missense_Mutation_p.Q88H			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	138						nucleus	ATP binding|protein kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		GCTTCAGCGTCTGAGGGCTCT	0.592000													5	167					0	0	0.014758	0	0
EVX1	2128	broad.mit.edu	37	7	27282823	27282823	+	Silent	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr7:27282823G>A	ENST00000496902.4	+	1	660	c.174G>A	c.(172-174)cgG>cgA	p.R58R	EVX1-AS_ENST00000519218.1_RNA|EVX1-AS_ENST00000517726.1_RNA|EVX1_ENST00000222761.3_Silent_p.R58R			P49640	EVX1_HUMAN	even-skipped homeobox 1	58						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						CGGCCACCCGGGAGCGCGGCG	0.756000													3	4					0	0	0.004672	0	0
EHBP1	23301	broad.mit.edu	37	2	63175836	63175836	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr2:63175836C>T	ENST00000263991.5	+	14	2442	c.1960C>T	c.(1960-1962)Cag>Tag	p.Q654*	EHBP1_ENST00000405015.3_Nonsense_Mutation_p.Q619*|EHBP1_ENST00000431489.1_Nonsense_Mutation_p.Q619*|EHBP1_ENST00000405289.1_Nonsense_Mutation_p.Q619*|EHBP1_ENST00000354487.3_Nonsense_Mutation_p.Q619*	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	654						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			CACAGAACCCCAGAAGTCTCA	0.473000													4	59					0	0	0.009096	0	0
MUC17	140453	broad.mit.edu	37	7	100678437	100678437	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr7:100678437G>C	ENST00000306151.4	+	3	3804	c.3740G>C	c.(3739-3741)aGc>aCc	p.S1247T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1247	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTTGACACCAGCACACCTGTG	0.502000													18	851					0	0	0.038395	0	0
ZNF708	7562	broad.mit.edu	37	19	21476571	21476571	+	Silent	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr19:21476571T>C	ENST00000356929.3	-	4	1394	c.1197A>G	c.(1195-1197)aaA>aaG	p.K399K		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						TGGTAAAGGCTTTACCACATT	0.368000													13	62					0	0	0.020292	0	0
UNC5A	90249	broad.mit.edu	37	5	176306761	176306761	+	Silent	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr5:176306761C>A	ENST00000329542.4	+	15	2677	c.2403C>A	c.(2401-2403)gcC>gcA	p.A801A	UNC5A_ENST00000261961.3_Silent_p.A761A	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	801	Death.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCCCACAGCCATGATCCTCA	0.687000													33	19					3.11337e-16	3.94013e-16	0.054565	1	0
ULBP1	80329	broad.mit.edu	37	6	150289860	150289860	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr6:150289860A>G	ENST00000229708.2	+	2	246	c.203A>G	c.(202-204)aAc>aGc	p.N68S	ULBP1_ENST00000367345.1_Missense_Mutation_p.N68S	NM_025218.2	NP_079494.1	Q9BZM6	N2DL1_HUMAN	UL16 binding protein 1	68	MHC class I alpha-1 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|endoplasmic reticulum|MHC class I protein complex	MHC class I receptor activity			large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		GACTGTGTTAACCACAAGGCC	0.448000													26	173					0	0	0.030593	0	0
NEB	4703	broad.mit.edu	37	2	152426863	152426863	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr2:152426863A>T	ENST00000397345.3	-	109	17364	c.17162T>A	c.(17161-17163)gTg>gAg	p.V5721E	NEB_ENST00000172853.10_Missense_Mutation_p.V4020E|NEB_ENST00000427231.2_Missense_Mutation_p.V5721E|NEB_ENST00000604864.1_Missense_Mutation_p.V5721E|NEB_ENST00000409198.1_Missense_Mutation_p.V4020E|NEB_ENST00000603639.1_Missense_Mutation_p.V5721E	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	5737					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GAGGGTGCCCACGTAGTGTCC	0.512000													10	21					0	0	0.010729	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17167258	17167258	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr11:17167258A>G	ENST00000265970.7	-	7	1660	c.1661T>C	c.(1660-1662)tTa>tCa	p.L554S	PIK3C2A_ENST00000540361.1_Missense_Mutation_p.L174S|PIK3C2A_ENST00000531428.1_5'UTR	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	554					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	ATAAGAATCTAAGAGTTCTTC	0.343000													6	89					0	0	0.029380	0	0
ALG6	29929	broad.mit.edu	37	1	63894423	63894423	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:63894423A>G	ENST00000371108.4	+	13	1383	c.1078A>G	c.(1078-1080)Agt>Ggt	p.S360G	ALG6_ENST00000263440.4_Missense_Mutation_p.S362G|ALG6_ENST00000494765.1_3'UTR	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	360					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CTTAGTTTTAAGTGAAATTCC	0.229000													6	46					0	0	0.038147	0	0
TDRD6	221400	broad.mit.edu	37	6	46658843	46658843	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr6:46658843C>G	ENST00000544460.1	+	1	3232	c.2978C>G	c.(2977-2979)aCg>aGg	p.T993R	TDRD6_ENST00000316081.6_Missense_Mutation_p.T993R	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	993					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTTTATATAACGCATATTGAT	0.333000													19	30					0	0	0.043863	0	0
DLGAP2	9228	broad.mit.edu	37	8	1497595	1497595	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr8:1497595T>A	ENST00000421627.2	+	2	870	c.736T>A	c.(736-738)Tgc>Agc	p.C246S		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	325					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CGTGGCCCACTGCTACCCCGA	0.662000													6	93					0	0	0.029380	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140742083	140742083	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr5:140742083G>T	ENST00000522605.1	+	1	2381	c.2381G>T	c.(2380-2382)gGa>gTa	p.G794V	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAAATCATGGAGCCGCTGGG	0.418000													42	26					1.59932e-28	2.18616e-28	0.030466	1	0
LYST	1130	broad.mit.edu	37	1	235944170	235944170	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:235944170A>T	ENST00000389794.3	-	16	5383	c.5209T>A	c.(5209-5211)Tta>Ata	p.L1737I	LYST_ENST00000389793.2_Missense_Mutation_p.L1737I|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1737					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTTACAATTAAGAGACCAATA	0.229000													10	15					0	0	0.006214	0	0
SPEN	23013	broad.mit.edu	37	1	16261619	16261619	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:16261619G>A	ENST00000375759.3	+	11	9088	c.8884G>A	c.(8884-8886)Gac>Aac	p.D2962N		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2962					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GAAGCTTGCTGACCCCGTCAC	0.592000													21	19					0	0	0.055883	0	0
SLC7A14	57709	broad.mit.edu	37	3	170198079	170198079	+	Splice_Site	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr3:170198079C>A	ENST00000231706.4	-	7	2307	c.1993_splice	c.e7+1	p.V664_splice	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	664						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)			GTTGCTTACCCACAAAGCACC	0.498000													45	195					6.21074e-16	7.82258e-16	0.042209	1	0
DNMBP	23268	broad.mit.edu	37	10	101716378	101716378	+	Silent	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr10:101716378G>A	ENST00000342239.3	-	4	944	c.853C>T	c.(853-855)Ctg>Ttg	p.L285L	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000324109.4_Silent_p.L285L			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	285	SH3 4.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CTGCCCTTCAGGGATCCTTCC	0.542000													4	43					0	0	0.009096	0	0
ERCC6L	54821	broad.mit.edu	37	X	71425455	71425455	+	Silent	SNP	T	T	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chrX:71425455T>G	ENST00000373657.1	-	3	3395	c.2793A>C	c.(2791-2793)tcA>tcC	p.S931S	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Silent_p.S1054S			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	1054					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					GTTTCACAGATGAGAATTGAA	0.358000													50	19					0	0	0.048971	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50186368	50186368	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr12:50186368G>A	ENST00000335999.6	-	12	3854	c.3653C>T	c.(3652-3654)cCc>cTc	p.P1218L		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	1214	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GTCTTCACAGGGATCTGTCCA	0.632000													8	62					0	0	0.038147	0	0
ANO6	196527	broad.mit.edu	37	12	45796949	45796949	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr12:45796949A>G	ENST00000320560.8	+	14	1909	c.1707A>G	c.(1705-1707)atA>atG	p.I569M	ANO6_ENST00000423947.3_Missense_Mutation_p.I590M|ANO6_ENST00000441606.2_Missense_Mutation_p.I551M|ANO6_ENST00000435642.1_Missense_Mutation_p.I569M|ANO6_ENST00000425752.2_Missense_Mutation_p.I569M|ANO6_ENST00000426898.2_3'UTR	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	569					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GCTTCTACATAGCATTCTTTA	0.378000													37	72					0	0	0.030466	0	0
STRIP2	57464	broad.mit.edu	37	7	129099406	129099406	+	Silent	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr7:129099406G>T	ENST00000249344.2	+	12	1429	c.1389G>T	c.(1387-1389)gtG>gtT	p.V463V	STRIP2_ENST00000435494.2_Silent_p.V463V	NM_020704.2	NP_065755.1			striatin interacting protein 2																		ATGAGAGTGTGAAGACCCTAA	0.517000													8	75					1.06961e-07	1.20645e-07	0.038147	1	0
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													6	99					0	0	0.029380	0	0
SMARCA2	6595	broad.mit.edu	37	9	2054631	2054631	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr9:2054631C>A	ENST00000382203.1	+	6	1290	c.1081C>A	c.(1081-1083)Ctg>Atg	p.L361M	SMARCA2_ENST00000349721.2_Missense_Mutation_p.L361M|SMARCA2_ENST00000382194.1_Missense_Mutation_p.L361M|SMARCA2_ENST00000357248.2_Missense_Mutation_p.L361M			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	361					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GATACAAGAACTGGAAAATCT	0.413000													46	100					4.53413e-08	5.13609e-08	0.045515	1	0
C20orf26	26074	broad.mit.edu	37	20	20243767	20243767	+	Silent	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr20:20243767C>T	ENST00000245957.5	+	21	2572	c.2496C>T	c.(2494-2496)acC>acT	p.T832T	C20orf26_ENST00000389656.3_Silent_p.T188T|RP5-1096J16.1_ENST00000460400.1_RNA|C20orf26_ENST00000377293.1_Silent_p.T188T|C20orf26_ENST00000377309.2_Silent_p.T188T	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	832										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		ACTCCATCACCACAGAAGGTA	0.408000													55	67					0	0	0.048971	0	0
STAG2	10735	broad.mit.edu	37	X	123190030	123190030	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chrX:123190030G>C	ENST00000371160.1	+	14	1539	c.1249G>C	c.(1249-1251)Gtt>Ctt	p.V417L	STAG2_ENST00000354548.5_Missense_Mutation_p.V348L|STAG2_ENST00000218089.9_Missense_Mutation_p.V417L|STAG2_ENST00000371144.3_Missense_Mutation_p.V417L|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371145.3_Missense_Mutation_p.V417L|STAG2_ENST00000371157.3_Missense_Mutation_p.V417L			Q8N3U4	STAG2_HUMAN	stromal antigen 2	417					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						CTATCATCTGGTTTATTCAGC	0.363000													10	40					0	0	0.020292	0	0
EPHB4	2050	broad.mit.edu	37	7	100411612	100411612	+	Silent	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr7:100411612C>G	ENST00000358173.3	-	9	2088	c.1620G>C	c.(1618-1620)ctG>ctC	p.L540L	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Silent_p.L540L	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	540					cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					TGCCCGCAATCAGGGCCAGCT	0.637000													28	113					0	0	0.017118	0	0
NRAP	4892	broad.mit.edu	37	10	115377298	115377298	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr10:115377298C>A	ENST00000369358.4	-	26	3157	c.2913G>T	c.(2911-2913)caG>caT	p.Q971H	NRAP_ENST00000360478.3_Missense_Mutation_p.Q928H|NRAP_ENST00000359988.3_Missense_Mutation_p.Q963H|NRAP_ENST00000369360.3_Missense_Mutation_p.Q936H			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	963						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CATCTGGATGCTGACGGTACT	0.398000													63	51					1.12612e-26	1.52748e-26	0.048971	1	0
VAMP7	6845	broad.mit.edu	37	X	155169366	155169366	+	Splice_Site	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chrX:155169366C>G	ENST00000286448.6	+	7	668	c.501_splice	c.e7-1	p.S168_splice	VAMP7_ENST00000262640.6_Splice_Site_p.V145_splice|VAMP7_ENST00000460621.1_Splice_Site_p.S127_splice|VAMP7_ENST00000479687.1_3'UTR	NM_001145149.2|NM_005638.5	NP_001138621.1|NP_005629.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	168	v-SNARE coiled-coil homology.				calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding			large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTTTTCTAGTCTGTCACCTTC	0.373000													8	141					0	0	0.038147	0	0
OR7G3	390883	broad.mit.edu	37	19	9237507	9237507	+	Silent	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr19:9237507C>A	ENST00000305444.2	-	1	119	c.120G>T	c.(118-120)ctG>ctT	p.L40L		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GCAGGTTCCCCAGCATTGTGG	0.542000													14	54					0.00185496	0.00191655	0.016723	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33624377	33624377	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr5:33624377C>G	ENST00000504830.1	-	14	2437	c.2102G>C	c.(2101-2103)tGc>tCc	p.C701S	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Intron	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	701	Spacer 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CACAGTCTGGCAGGAAGAGCC	0.498000										HNSCC(64;0.19)			44	63					0	0	0.033182	0	0
PARP4	143	broad.mit.edu	37	13	25044048	25044048	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr13:25044048T>C	ENST00000381989.3	-	16	2135	c.2030A>G	c.(2029-2031)aAg>aGg	p.K677R		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	677	VIT.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AACTATGTGCTTCCCATTGAT	0.468000													10	51					0	0	0.008291	0	0
TMC6	11322	broad.mit.edu	37	17	76120773	76120773	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr17:76120773G>T	ENST00000590602.1	-	8	882	c.723C>A	c.(721-723)ttC>ttA	p.F241L	TMC6_ENST00000589553.1_Missense_Mutation_p.F14L|TMC6_ENST00000322914.3_Missense_Mutation_p.F241L|TMC6_ENST00000322933.4_5'UTR|TMC6_ENST00000306591.7_Missense_Mutation_p.F241L|TMC6_ENST00000392467.3_Missense_Mutation_p.F241L			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	241						endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CGCTGGAGCCGAACTGGCCCC	0.662000													5	13					1.23904e-05	1.33493e-05	0.014758	1	0
SPATA18	132671	broad.mit.edu	37	4	52944931	52944931	+	Silent	SNP	A	A	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr4:52944931A>C	ENST00000295213.4	+	8	1425	c.1051A>C	c.(1051-1053)Aga>Cga	p.R351R	SPATA18_ENST00000419395.2_Silent_p.R319R	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	351					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			AATGGCATTCAGACACTTCAA	0.383000													42	30					0	0	0.036044	0	0
SYCE1	93426	broad.mit.edu	37	10	135368927	135368927	+	Silent	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr10:135368927C>G	ENST00000368517.3	-	12	876	c.738G>C	c.(736-738)ctG>ctC	p.L246L	SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000432597.2_Silent_p.L246L|SYCE1_ENST00000343131.5_Silent_p.L282L	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	282					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CATGCTTTTCCAGCTCTTCCT	0.562000													6	75					0	0	0.029380	0	0
KLK4	9622	broad.mit.edu	37	19	51410224	51410224	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr19:51410224G>C	ENST00000324041.1	-	5	730	c.731C>G	c.(730-732)aCt>aGt	p.T244S	KLK4_ENST00000431178.2_3'UTR	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	244	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		TATCCACTCAGTGAATTTGCA	0.517000													62	142					0	0	0.048971	0	0
NNMT	4837	broad.mit.edu	37	11	114182768	114182768	+	Splice_Site	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr11:114182768G>C	ENST00000535401.1	+	5	628	c.362_splice	c.e5-1	p.V122_splice	NNMT_ENST00000545255.1_5'UTR|NNMT_ENST00000542647.1_5'UTR|RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000299964.3_Splice_Site_p.V122_splice|NNMT_ENST00000541754.1_5'UTR			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	122					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	GTTTTTCAGAGTCAAGGGTCC	0.527000													36	55					0	0	0.023175	0	0
GABRR1	2569	broad.mit.edu	37	6	89895127	89895127	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr6:89895127C>T	ENST00000435811.1	-	6	1101	c.647G>A	c.(646-648)gGc>gAc	p.G216D	GABRR1_ENST00000369451.3_Missense_Mutation_p.G146D|GABRR1_ENST00000454853.2_Missense_Mutation_p.G233D	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	233					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	GGAGTCATTGCCCTTTTTCCA	0.493000													51	78					0	0	0.048971	0	0
ARMC4	55130	broad.mit.edu	37	10	28276314	28276314	+	Splice_Site	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr10:28276314C>T	ENST00000305242.5	-	3	475		c.e3+1		ARMC4_ENST00000239715.3_Splice_Site	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4								binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ATTAAGATCACCTTCAACACA	0.418000													5	31					0	0	0.029380	0	0
OR4S2	219431	broad.mit.edu	37	11	55418652	55418652	+	Silent	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr11:55418652C>G	ENST00000312422.2	+	1	273	c.273C>G	c.(271-273)tcC>tcG	p.S91S		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				AAACCATCTCCTATGTGGGGT	0.413000													49	220					0	0	0.048971	0	0
TTN	7273	broad.mit.edu	37	2	179446923	179446923	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr2:179446923C>A	ENST00000589042.1	-	315	66397	c.66173G>T	c.(66172-66174)cGc>cTc	p.R22058L	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R19490L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R12993L|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R20417L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R13118L|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R13185L|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20417	Ig-like 115.						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)			AGGATCACAGCGTCCTGGTGG	0.423000													36	44					7.11191e-15	8.93634e-15	0.054565	1	0
RXRB	6257	broad.mit.edu	37	6	33165612	33165612	+	Silent	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr6:33165612C>T	ENST00000374680.3	-	4	958	c.747G>A	c.(745-747)gtG>gtA	p.V249V	RXRB_ENST00000413614.2_Silent_p.V153V|RXRB_ENST00000374685.4_Silent_p.V249V|RXRB_ENST00000544186.1_Silent_p.V59V	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	249					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	GGCGCTTGTCCACTGTGCAGT	0.577000													11	32					0	0	0.010729	0	0
TRA2A	29896	broad.mit.edu	37	7	23547088	23547088	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr7:23547088T>C	ENST00000297071.4	-	5	808	c.592A>G	c.(592-594)Aag>Gag	p.K198E	TRA2A_ENST00000538367.1_Missense_Mutation_p.K97E|TRA2A_ENST00000392502.4_Missense_Mutation_p.K97E|TRA2A_ENST00000474586.1_5'UTR	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	198	Linker.				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						TGCGCTCTCTTGGTTATAGAA	0.418000													6	206					0	0	0.021553	0	0
ANK3	288	broad.mit.edu	37	10	61844979	61844979	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr10:61844979T>C	ENST00000280772.1	-	31	3972	c.3781A>G	c.(3781-3783)Aca>Gca	p.T1261A	ANK3_ENST00000503366.1_Missense_Mutation_p.T1262A|ANK3_ENST00000373827.2_Missense_Mutation_p.T1255A|ANK3_ENST00000355288.2_Missense_Mutation_p.T395A	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1261					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTTGTTCCTGTGATGTCTTCC	0.408000													30	52					0	0	0.045705	0	0
NCSTN	23385	broad.mit.edu	37	1	160319441	160319441	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:160319441G>T	ENST00000368063.1	+	5	637	c.357G>T	c.(355-357)caG>caT	p.Q119H	NCSTN_ENST00000535857.1_Missense_Mutation_p.Q139H|NCSTN_ENST00000294785.5_Missense_Mutation_p.Q139H|NCSTN_ENST00000392212.4_Missense_Mutation_p.Q119H			Q92542	NICA_HUMAN	nicastrin	139					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTAGTGTACAGTGCCCAAATG	0.507000													21	43					3.62473e-10	4.26107e-10	0.012319	1	0
GPR156	165829	broad.mit.edu	37	3	119886046	119886046	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr3:119886046G>A	ENST00000464295.1	-	10	2723	c.2278C>T	c.(2278-2280)Cgg>Tgg	p.R760W	GPR156_ENST00000315843.3_Missense_Mutation_p.R760W|GPR156_ENST00000461057.1_Missense_Mutation_p.R756W			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	760						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		CAGTAGGGCCGGTGGCAGCGG	0.572000													41	266					0	0	0.025465	0	0
LUM	4060	broad.mit.edu	37	12	91502573	91502573	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr12:91502573G>T	ENST00000266718.4	-	2	638	c.184C>A	c.(184-186)Cca>Aca	p.P62T	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	62	LRRNT.				collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						GGCACCATTGGTACACTTTTC	0.418000													25	59					3.08376e-08	3.50067e-08	0.018920	1	0
GNAL	2774	broad.mit.edu	37	18	11876671	11876671	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr18:11876671T>A	ENST00000334049.6	+	11	1822	c.1214T>A	c.(1213-1215)aTc>aAc	p.I405N	GNAL_ENST00000269162.5_Missense_Mutation_p.I328N|GNAL_ENST00000535121.1_Missense_Mutation_p.I328N|GNAL_ENST00000423027.3_Missense_Mutation_p.I328N|GNAL_ENST00000535980.1_3'UTR|GNAL_ENST00000602628.1_Missense_Mutation_p.I121N	NM_182978.3	NP_892023.1	P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	328					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						AAGTTCTTTATCCGGGACCTG	0.348000													18	142					0	0	0.038395	0	0
ADORA3	140	broad.mit.edu	37	1	112026354	112026354	+	Silent	SNP	C	C	T	rs138837803	byFrequency	TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:112026354C>T	ENST00000369716.4	-	6	1132	c.999G>A	c.(997-999)tcG>tcA	p.S333S	ADORA3_ENST00000369717.4_Silent_p.S252S	NM_020683.6	NP_065734.5	P33765	AA3R_HUMAN	adenosine A3 receptor	0					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	TCAGGACACGCGAGAAGGGCT	0.408000													12	52					0	0	0.010729	0	0
KEAP1	9817	broad.mit.edu	37	19	10602767	10602767	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr19:10602767C>T	ENST00000171111.5	-	3	1358	c.811G>A	c.(811-813)Gtg>Atg	p.V271M	KEAP1_ENST00000393623.2_Missense_Mutation_p.V271M|KEAP1_ENST00000588024.1_5'UTR	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	271	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			TGGCAGCGCACGGCCCGCAGC	0.617000													30	26					0	0	0.045705	0	0
ASPM	259266	broad.mit.edu	37	1	197071758	197071758	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:197071758T>A	ENST00000367409.4	-	18	6879	c.6623A>T	c.(6622-6624)tAc>tTc	p.Y2208F	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2208	IQ 19.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTTATTAAAGTATGTTTGCTG	0.348000													5	90					0	0	0.014758	0	0
DLC1	10395	broad.mit.edu	37	8	12957341	12957341	+	Silent	SNP	A	A	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr8:12957341A>T	ENST00000276297.4	-	9	2914	c.2505T>A	c.(2503-2505)tcT>tcA	p.S835S	DLC1_ENST00000512044.2_Silent_p.S432S|DLC1_ENST00000520226.1_Silent_p.S324S|DLC1_ENST00000358919.2_Silent_p.S398S	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	835					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCCAGTTCACAGAGCCGTTAT	0.557000													39	43					0	0	0.025465	0	0
CUBN	8029	broad.mit.edu	37	10	16948391	16948391	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr10:16948391G>C	ENST00000377833.4	-	50	7788	c.7723C>G	c.(7723-7725)Cca>Gca	p.P2575A		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2575	CUB 19.		P -> R (in dbSNP:rs3740168).		cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGAGTATTTGGAAGAGACCCA	0.423000													17	44					0	0	0.055883	0	0
OR2T1	26696	broad.mit.edu	37	1	248570065	248570065	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:248570065T>C	ENST00000366474.1	+	1	770	c.770T>C	c.(769-771)cTg>cCg	p.L257P		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	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)			GTTTTGATGCTGCTGATTCCT	0.498000													14	109					0	0	0.016723	0	0
LRRC7	57554	broad.mit.edu	37	1	70451994	70451994	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:70451994G>T	ENST00000310961.5	+	11	1175	c.757G>T	c.(757-759)Gac>Tac	p.D253Y	LRRC7_ENST00000035383.5_Missense_Mutation_p.D248Y|LRRC7_ENST00000415775.2_5'UTR			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	248						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGTTGACATGGACATTTCTGG	0.358000													17	42					1.67942e-08	1.91468e-08	0.038395	1	0
PLAG1	5324	broad.mit.edu	37	8	57079654	57079654	+	Silent	SNP	A	A	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr8:57079654A>G	ENST00000316981.3	-	5	1130	c.651T>C	c.(649-651)taT>taC	p.Y217Y	PLAG1_ENST00000429357.2_Silent_p.Y217Y|PLAG1_ENST00000423799.2_Silent_p.Y135Y	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	217	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			TCTGTGCACAATACTGACAGA	0.488000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma								7	67					0	0	0.038147	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274215	39274215	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr17:39274215C>G	ENST00000391413.2	-	1	391	c.353G>C	c.(352-354)aGc>aCc	p.S118T		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	118	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			tctgcagcagctggacacaca	0.652000													19	53					0	0	0.049695	0	0
C19orf47	126526	broad.mit.edu	37	19	40828069	40828069	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr19:40828069C>A	ENST00000582783.1	-	9	1001	c.989G>T	c.(988-990)cGg>cTg	p.R330L	C19orf47_ENST00000392035.2_Missense_Mutation_p.R263L|C19orf47_ENST00000584868.1_5'UTR	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	330										endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			CGCCAGGCGCCGCAGTGTCGG	0.632000													22	44					9.57634e-11	1.13585e-10	0.018920	1	0
DCC	1630	broad.mit.edu	37	18	50961542	50961542	+	Silent	SNP	A	A	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr18:50961542A>T	ENST00000442544.2	+	22	3808	c.3192A>T	c.(3190-3192)ccA>ccT	p.P1064P	DCC_ENST00000581580.1_Silent_p.P699P	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1064					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GTTATTGGCCAGTTGATACTA	0.303000													6	224					0	0	0.029380	0	0
NLRC5	84166	broad.mit.edu	37	16	57059658	57059658	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr16:57059658C>T	ENST00000436936.1	+	6	1028	c.803C>T	c.(802-804)aCg>aTg	p.T268M	NLRC5_ENST00000539144.1_Missense_Mutation_p.T268M|NLRC5_ENST00000308149.7_Missense_Mutation_p.T268M|NLRC5_ENST00000262510.6_Missense_Mutation_p.T268M			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	268	NACHT.				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AACTTGATCACGAGGTTCCTG	0.557000													56	37					0	0	0.048971	0	0
TMEM87B	84910	broad.mit.edu	37	2	112849307	112849307	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr2:112849307G>A	ENST00000283206.4	+	11	1420	c.1051G>A	c.(1051-1053)Gtt>Att	p.V351I	TMEM87B_ENST00000463427.1_3'UTR	NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	351						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						CCATTTAGCTGTTGTTCTTGA	0.303000													10	25					0	0	0.010729	0	0
MACF1	23499	broad.mit.edu	37	1	39760802	39760802	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:39760802C>T	ENST00000564288.1	+	19	3016	c.2239C>T	c.(2239-2241)Cca>Tca	p.P747S	MACF1_ENST00000545844.1_Missense_Mutation_p.P752S|MACF1_ENST00000567887.1_Missense_Mutation_p.P784S|MACF1_ENST00000317713.7_Missense_Mutation_p.P752S|MACF1_ENST00000372915.3_Missense_Mutation_p.P752S|MACF1_ENST00000539005.1_Missense_Mutation_p.P752S|MACF1_ENST00000361689.2_Missense_Mutation_p.P752S			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	752					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGAGAACCACCCAGCCAAGCA	0.413000													13	356					0	0	0.020292	0	0
KRT6A	3853	broad.mit.edu	37	12	52881665	52881665	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr12:52881665C>T	ENST00000330722.6	-	9	1602	c.1534G>A	c.(1534-1536)Gga>Aga	p.G512R		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	512	Tail.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		TAGCTGCTTCCTCCACCCAGG	0.627000													9	92					0	0	0.047766	0	0
ALG10B	144245	broad.mit.edu	37	12	38714214	38714214	+	Silent	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr12:38714214G>A	ENST00000308742.4	+	3	937	c.621G>A	c.(619-621)gaG>gaA	p.E207E	ALG10B_ENST00000551464.1_Intron	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	207					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				AGTTAACTGAGGCTTGGAAAA	0.398000													85	184					0	0	0.048971	0	0
DNM3	26052	broad.mit.edu	37	1	172013594	172013594	+	Splice_Site	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:172013594C>G	ENST00000358155.4	+	9	1372		c.e9+2		DNM3_ENST00000355305.5_Splice_Site|DNM3_ENST00000367731.1_Splice_Site|DNM3_ENST00000367733.2_Splice_Site|DNM3_ENST00000520906.1_Splice_Site	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3						endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TGGTATCAGGCAAGTGATTCA	0.343000													7	7					0	0	0.038147	0	0
TRIM31	11074	broad.mit.edu	37	6	30071450	30071450	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr6:30071450C>T	ENST00000376734.3	-	9	1266	c.1141G>A	c.(1141-1143)Gat>Aat	p.D381N	TRIM31_ENST00000540829.1_Missense_Mutation_p.D381N	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	381						mitochondrion	ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						GAAATCTCATCATAAGAGGCC	0.557000													7	110					0	0	0.029380	0	0
WDR26	80232	broad.mit.edu	37	1	224605976	224605976	+	Silent	SNP	G	G	A	rs140689711		TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:224605976G>A	ENST00000414423.2	-	6	1198	c.1005C>T	c.(1003-1005)gaC>gaT	p.D335D	WDR26_ENST00000295024.6_Silent_p.D188D|WDR26_ENST00000366852.2_3'UTR	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	335						cytoplasm|nucleus				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		TACAAACATGGTCTATAAGCA	0.373000													50	96					0	0	0.048971	0	0
SMPDL3A	10924	broad.mit.edu	37	6	123116820	123116820	+	Splice_Site	SNP	A	A	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr6:123116820A>T	ENST00000368440.4	+	2	289		c.e2-1		SMPDL3A_ENST00000539041.1_Intron|SMPDL3A_ENST00000487215.1_Splice_Site	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A						sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity			breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		TGTAATCAACAGGACAGTTTT	0.373000													14	51					0	0	0.020292	0	0
ZFP30	22835	broad.mit.edu	37	19	38134227	38134227	+	Silent	SNP	T	T	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr19:38134227T>A	ENST00000351218.2	-	5	731	c.174A>T	c.(172-174)ctA>ctT	p.L58L	ZFP30_ENST00000589018.1_Silent_p.L57L|ZFP30_ENST00000514101.2_Silent_p.L58L|ZFP30_ENST00000392144.1_Silent_p.L58L	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	58	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTTGTTCCAATAGGGTGATCA	0.378000													79	159					0	0	0.048971	0	0
COL5A2	1290	broad.mit.edu	37	2	189916084	189916084	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr2:189916084G>A	ENST00000374866.3	-	42	3167	c.2893C>T	c.(2893-2895)Cca>Tca	p.P965S		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	965					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TTGTCTCCTGGGCCACCAGGG	0.582000													18	64					0	0	0.038395	0	0
CARD11	84433	broad.mit.edu	37	7	2962845	2962845	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr7:2962845C>G	ENST00000396946.4	-	16	2466	c.2063G>C	c.(2062-2064)cGa>cCa	p.R688P		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	688	PDZ.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GAAGCTCCCTCGCGCGTTGCC	0.701000			Mis		DLBCL								24	51					0	0	0.016522	0	0
GDI1	2664	broad.mit.edu	37	X	153670128	153670128	+	Silent	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chrX:153670128C>G	ENST00000447750.2	+	8	1313	c.978C>G	c.(976-978)gtC>gtG	p.V326V	GDI1_ENST00000465640.1_3'UTR	NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	326					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGAACCAGGTCAACAGGAAGT	0.547000													40	32					0	0	0.033182	0	0
FOXJ3	22887	broad.mit.edu	37	1	42660660	42660660	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:42660660C>G	ENST00000372572.1	-	10	1146	c.835G>C	c.(835-837)Gac>Cac	p.D279H	FOXJ3_ENST00000545068.1_Missense_Mutation_p.D279H|FOXJ3_ENST00000361776.1_Missense_Mutation_p.D245H|FOXJ3_ENST00000361346.1_Missense_Mutation_p.D279H|FOXJ3_ENST00000372573.1_Missense_Mutation_p.D279H	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	279					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGTTGCTTGTCTCTTTCTGGA	0.383000													68	261					0	0	0.048971	0	0
NEIL2	252969	broad.mit.edu	37	8	11628971	11628971	+	Silent	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr8:11628971G>A	ENST00000284503.6	+	2	614	c.15G>A	c.(13-15)ccG>ccA	p.P5P	NEIL2_ENST00000455213.2_Silent_p.P5P|NEIL2_ENST00000403422.3_Intron|NEIL2_ENST00000436750.3_Silent_p.P5P|NEIL2_ENST00000528323.1_Silent_p.P5P	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	nei endonuclease VIII-like 2 (E. coli)	5					base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		CAGAAGGGCCGTTGGTGAGGA	0.542000								Base excision repair (BER), DNA glycosylases					4	77					0	0	0.009096	0	0
NDNF	79625	broad.mit.edu	37	4	121958648	121958648	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr4:121958648T>C	ENST00000379692.4	-	4	1004	c.478A>G	c.(478-480)Aaa>Gaa	p.K160E	NDNF_ENST00000506900.1_5'UTR	NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	160										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						GCATATACTTTGAAATGTGTG	0.448000													63	55					0	0	0.048971	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74575191	74575191	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:74575191C>A	ENST00000354431.4	-	5	945	c.754G>T	c.(754-756)Gga>Tga	p.G252*	LRRIQ3_ENST00000395089.1_Nonsense_Mutation_p.G252*|LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000370909.2_Nonsense_Mutation_p.G144*	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	252										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						GCTTCATATCCTCTAATAATT	0.323000													5	37					1.23904e-05	1.33493e-05	0.014758	1	0
GRIK2	2898	broad.mit.edu	37	6	102516386	102516386	+	Nonstop_Mutation	SNP	A	A	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr6:102516386A>C	ENST00000421544.1	+	16	3217	c.2727A>C	c.(2725-2727)taA>taC	p.*909Y	GRIK2_ENST00000369137.3_Nonstop_Mutation_p.*833Y|GRIK2_ENST00000369134.4_Nonstop_Mutation_p.*860Y|GRIK2_ENST00000413795.1_3'UTR|GRIK2_ENST00000369138.1_3'UTR	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	0					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	CCATGGCATAAAGCTGGGAGG	0.408000													8	28					0	0	0.038147	0	0
EPHA10	284656	broad.mit.edu	37	1	38227456	38227456	+	Silent	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:38227456C>T	ENST00000373048.4	-	3	470	c.471G>A	c.(469-471)gcG>gcA	p.A157A	EPHA10_ENST00000319637.6_Silent_p.A157A|EPHA10_ENST00000427468.2_Silent_p.A157A	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	157						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGCTCTCGTCCGCCGCGATCG	0.662000													22	133					0	0	0.012319	0	0
APOO	79135	broad.mit.edu	37	X	23897136	23897136	+	Missense_Mutation	SNP	C	C	G	rs140548900		TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chrX:23897136C>G	ENST00000379226.4	-	3	364	c.133G>C	c.(133-135)Gtt>Ctt	p.V45L	APOO_ENST00000379220.3_Missense_Mutation_p.V45L	NM_024122.4	NP_077027.1	Q9BUR5	APOO_HUMAN	apolipoprotein O	45					lipid transport	high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						CCCTCAGGAACTGAGTAGAGT	0.398000													33	13					0	0	0.054565	0	0
RP1L1	94137	broad.mit.edu	37	8	10469381	10469381	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr8:10469381C>A	ENST00000382483.3	-	4	2450	c.2227G>T	c.(2227-2229)Gca>Tca	p.A743S		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	743					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GAGTGGACTGCAGGGGTGACA	0.652000													37	25					3.3946e-10	4.01732e-10	0.023175	1	0
ZNF471	57573	broad.mit.edu	37	19	57037085	57037085	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr19:57037085A>G	ENST00000308031.5	+	5	1782	c.1649A>G	c.(1648-1650)aAa>aGa	p.K550R	ZNF471_ENST00000593197.1_3'UTR|ZNF471_ENST00000591537.1_3'UTR	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	550					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		GAATGCGGGAAAGCCTTCAGC	0.388000													11	99					0	0	0.013537	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146471385	146471385	+	Silent	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr7:146471385C>A	ENST00000361727.3	+	2	636	c.120C>A	c.(118-120)gtC>gtA	p.V40V		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	40	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGCCACTTGTCTCTGGACTCC	0.443000										HNSCC(39;0.1)			14	36					6.31663e-08	7.13995e-08	0.024245	1	0
MARCH6	10299	broad.mit.edu	37	5	10415612	10415612	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr5:10415612G>T	ENST00000274140.5	+	21	2111	c.1979G>T	c.(1978-1980)cGt>cTt	p.R660L	MARCH6_ENST00000503788.1_Missense_Mutation_p.R555L|MARCH6_ENST00000449913.2_Missense_Mutation_p.R612L|MARCH6_ENST00000510792.1_Missense_Mutation_p.R358L	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	660					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TTTGCTGGCCGTTGGTTAATG	0.413000													63	95					2.165e-29	2.96706e-29	0.048971	1	0
PCDH15	65217	broad.mit.edu	37	10	55587283	55587283	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr10:55587283C>A	ENST00000373965.2	-	33	4652	c.4258G>T	c.(4258-4260)Gca>Tca	p.A1420S	PCDH15_ENST00000320301.6_Missense_Mutation_p.A1413S|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.A1342S|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.A1410S|PCDH15_ENST00000414778.1_Missense_Mutation_p.A1415S|PCDH15_ENST00000409834.1_Missense_Mutation_p.A1024S|PCDH15_ENST00000395438.1_Missense_Mutation_p.A1413S|PCDH15_ENST00000395445.1_Missense_Mutation_p.A1420S|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395433.1_Missense_Mutation_p.A1388S|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.A1413S|PCDH15_ENST00000395432.2_Missense_Mutation_p.A1373S|PCDH15_ENST00000395446.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1413					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGAATTCGTGCAGTCTTTGTA	0.532000										HNSCC(58;0.16)			19	35					3.62473e-10	4.26107e-10	0.012319	1	0
OR8H1	219469	broad.mit.edu	37	11	56058516	56058516	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr11:56058516T>C	ENST00000313022.2	-	1	50	c.23A>G	c.(22-24)aAt>aGt	p.N8S		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GTCAGGCACATTTGTGTTATT	0.373000													28	79					0	0	0.027356	0	0
PCDH20	64881	broad.mit.edu	37	13	61986436	61986436	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr13:61986436C>G	ENST00000409186.1	-	5	3901	c.1796G>C	c.(1795-1797)cGa>cCa	p.R599P	PCDH20_ENST00000409204.4_Missense_Mutation_p.R599P			Q8N6Y1	PCD20_HUMAN	protocadherin 20	572	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TTTCTCTTCTCGGTCCAGCTG	0.458000													35	63					0	0	0.050027	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269947	150269947	+	Silent	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr7:150269947C>A	ENST00000255945.2	+	3	964	c.789C>A	c.(787-789)atC>atA	p.I263I	GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Silent_p.I277I	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	263							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAGAGAAAATCAGAAAGCTGG	0.463000													14	37					1.5842e-08	1.81394e-08	0.016723	1	0
HOXD1	3231	broad.mit.edu	37	2	177054664	177054664	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr2:177054664G>C	ENST00000331462.4	+	2	1004	c.781G>C	c.(781-783)Gag>Cag	p.E261Q		NM_024501.1	NP_078777.1	Q9GZZ0	HXD1_HUMAN	homeobox D1	261						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)		CCGGCGCATCGAGATAGCCAA	0.498000													6	188					0	0	0.021553	0	0
TENM1	10178	broad.mit.edu	37	X	123870989	123870989	+	Silent	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chrX:123870989C>T	ENST00000422452.2	-	4	657	c.594G>A	c.(592-594)ccG>ccA	p.P198P	TENM1_ENST00000371130.3_Silent_p.P198P	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.P200P(1)									CATGAGGAGGCGGAGGTGGCG	0.572000													4	51					0	0	0.009096	0	0
ITGA3	3675	broad.mit.edu	37	17	48153757	48153757	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr17:48153757C>T	ENST00000320031.8	+	13	2072	c.1742C>T	c.(1741-1743)cCc>cTc	p.P581L	ITGA3_ENST00000544892.1_3'UTR|ITGA3_ENST00000007722.7_Missense_Mutation_p.P581L	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	581					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						TTGCGGATGCCCGATCGCCCC	0.642000													10	266					0	0	0.008291	0	0
RTTN	25914	broad.mit.edu	37	18	67794907	67794907	+	Silent	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr18:67794907G>A	ENST00000255674.6	-	25	3500	c.3214C>T	c.(3214-3216)Ctg>Ttg	p.L1072L	RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000437017.1_Silent_p.L1072L	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1072							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CAGTCCTGCAGCCCACTAGCC	0.433000													15	29					0	0	0.028581	0	0
KIRREL2	84063	broad.mit.edu	37	19	36349635	36349635	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr19:36349635G>T	ENST00000360202.5	+	4	589	c.391G>T	c.(391-393)Ggc>Tgc	p.G131C	KIRREL2_ENST00000262625.7_Missense_Mutation_p.G131C|KIRREL2_ENST00000592409.1_Missense_Mutation_p.G131C|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000586102.2_Missense_Mutation_p.G131C|KIRREL2_ENST00000347900.6_Missense_Mutation_p.G81C	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	131	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGTGCTGGGCGGCCCCTCTGT	0.617000													62	88					1.45723e-30	2.00227e-30	0.048971	1	0
SCP2	6342	broad.mit.edu	37	1	53427185	53427185	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:53427185G>A	ENST00000371514.3	+	6	575	c.407G>A	c.(406-408)aGa>aAa	p.R136K	SCP2_ENST00000371513.5_Missense_Mutation_p.R92K|SCP2_ENST00000528311.1_Missense_Mutation_p.R55K|SCP2_ENST00000407246.2_Missense_Mutation_p.R112K|SCP2_ENST00000371509.4_Missense_Mutation_p.R92K	NM_002979.4	NP_002970.2	P22307	NLTP_HUMAN	sterol carrier protein 2	136					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						TTTTCAGATAGAACCATTCCC	0.378000													22	483					0	0	0.021523	0	0
TTN	7273	broad.mit.edu	37	2	179458844	179458844	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr2:179458844C>A	ENST00000589042.1	-	297	58500	c.58276G>T	c.(58276-58278)Gat>Tat	p.D19426Y	TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D16858Y|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D10361Y|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D17785Y|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D10486Y|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D10553Y|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17785	Fibronectin type-III 41.						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)			TCCAGCACATCAGCTTCATCT	0.458000													31	45					1.39806e-14	1.7484e-14	0.037714	1	0
IPO11	51194	broad.mit.edu	37	5	61847062	61847062	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr5:61847062G>A	ENST00000325324.6	+	26	2528	c.2359G>A	c.(2359-2361)Gtg>Atg	p.V787M	IPO11_ENST00000409296.3_Missense_Mutation_p.V827M	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	787						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		GTATCCTGTAGTGATGTCCAC	0.343000													9	69					0	0	0.006214	0	0
FAT1	2195	broad.mit.edu	37	4	187629040	187629040	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr4:187629040T>C	ENST00000441802.2	-	2	2151	c.1942A>G	c.(1942-1944)Aca>Gca	p.T648A		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	648	Cadherin 5.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCTCCATCTGTAGCTGTGATT	0.438000										HNSCC(5;0.00058)			43	39					0	0	0.048971	0	0
ZNF536	9745	broad.mit.edu	37	19	30935518	30935518	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr19:30935518G>T	ENST00000355537.3	+	2	1196	c.1049G>T	c.(1048-1050)tGc>tTc	p.C350F		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGCGAGGTGTGCGGTCAGGTG	0.652000													59	145					1.16596e-39	1.63172e-39	0.048971	1	0
MUC17	140453	broad.mit.edu	37	7	100684469	100684469	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr7:100684469G>T	ENST00000306151.4	+	3	9836	c.9772G>T	c.(9772-9774)Gaa>Taa	p.E3258*		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3258	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACTTCTACTGAAGCCAGTTC	0.507000													90	754					4.65891e-64	6.6074e-64	0.048971	1	0
SLC39A8	64116	broad.mit.edu	37	4	103189159	103189159	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr4:103189159C>A	ENST00000424970.2	-	7	1233	c.918G>T	c.(916-918)atG>atT	p.M306I	SLC39A8_ENST00000356736.4_Missense_Mutation_p.M306I|SLC39A8_ENST00000394833.2_Missense_Mutation_p.M306I	NM_001135147.1	NP_001128619.1	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter), member 8	306						integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		AGAGCGTTATCATCCAGGCAA	0.473000													59	33					1.19403e-26	1.61546e-26	0.048971	1	0
OBSCN	84033	broad.mit.edu	37	1	228550329	228550329	+	Silent	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:228550329G>A	ENST00000570156.2	+	91	21659	c.21585G>A	c.(21583-21585)ctG>ctA	p.L7195L	OBSCN_ENST00000422127.1_Silent_p.L6238L|OBSCN_ENST00000366707.4_Silent_p.L3872L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6238					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGAAGAGACTGCTGGGCCCCA	0.692000													8	39					0	0	0.047766	0	0
POMGNT1	55624	broad.mit.edu	37	1	46662402	46662402	+	Splice_Site	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:46662402C>T	ENST00000396420.3	-	4	991		c.e4+1		POMGNT1_ENST00000371992.1_Splice_Site|POMGNT1_ENST00000535522.1_Splice_Site|POMGNT1_ENST00000371986.3_Splice_Site|POMGNT1_ENST00000371984.3_Splice_Site			Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)						protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					GGCCCACTGACCGTGGTGCCA	0.602000													22	260					0	0	0.018920	0	0
FKBP6	8468	broad.mit.edu	37	7	72754751	72754751	+	Silent	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr7:72754751C>A	ENST00000252037.4	+	6	769	c.700C>A	c.(700-702)Cga>Aga	p.R234R	FKBP6_ENST00000413573.2_Silent_p.R204R|FKBP6_ENST00000431982.2_Silent_p.R229R	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	234					protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				GAAGCTAGACCGACCCACCAT	0.562000													26	44					3.28513e-13	4.03209e-13	0.021523	1	0
ENPP2	5168	broad.mit.edu	37	8	120613649	120613649	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr8:120613649G>T	ENST00000427067.2	-	10	1055	c.875C>A	c.(874-876)cCa>cAa	p.P292Q	ENPP2_ENST00000522826.1_Missense_Mutation_p.P296Q|ENPP2_ENST00000259486.6_Missense_Mutation_p.P296Q|ENPP2_ENST00000075322.6_Missense_Mutation_p.P296Q			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	296					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CTCATGATCTGGCAGGGTGAG	0.413000													36	29					6.97489e-18	8.95562e-18	0.021022	1	0
NRAP	4892	broad.mit.edu	37	10	115377299	115377299	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr10:115377299T>G	ENST00000369358.4	-	26	3156	c.2912A>C	c.(2911-2913)cAg>cCg	p.Q971P	NRAP_ENST00000360478.3_Missense_Mutation_p.Q928P|NRAP_ENST00000359988.3_Missense_Mutation_p.Q963P|NRAP_ENST00000369360.3_Missense_Mutation_p.Q936P			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	963						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		ATCTGGATGCTGACGGTACTT	0.398000													64	51					0	0	0.048971	0	0
ZNF536	9745	broad.mit.edu	37	19	30934735	30934735	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr19:30934735G>A	ENST00000355537.3	+	2	413	c.266G>A	c.(265-267)gGc>gAc	p.G89D		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	89					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AACCAGCTGGGCCGGGAGGTG	0.662000													13	26					0	0	0.013537	0	0
OR5M11	219487	broad.mit.edu	37	11	56310498	56310498	+	Missense_Mutation	SNP	G	G	T	rs140259136	by1000genomes	TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr11:56310498G>T	ENST00000528616.2	-	1	259	c.236C>A	c.(235-237)cCg>cAg	p.P79Q		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						CGACATCTGCGGGGTTGCATT	0.423000													8	104					0.000274275	0.00028731	0.047766	1	0
SGCD	6444	broad.mit.edu	37	5	155935673	155935673	+	Silent	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr5:155935673C>T	ENST00000435422.3	+	3	739	c.252C>T	c.(250-252)ttC>ttT	p.F84F	SGCD_ENST00000337851.4_Silent_p.F85F|SGCD_ENST00000447401.1_Silent_p.F85F|SGCD_ENST00000517913.1_Silent_p.F85F	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	84					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)			ACTCTGAATTCTTACAACCTC	0.408000													15	9					0	0	0.024245	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14851722	14851722	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr18:14851722C>A	ENST00000358984.4	+	36	3602	c.3422C>A	c.(3421-3423)gCa>gAa	p.A1141E		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1226										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ACAAAAAGGGCATCTCAGTAT	0.348000													14	27					3.32936e-07	3.70007e-07	0.038395	1	0
ULBP3	79465	broad.mit.edu	37	6	150385775	150385775	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr6:150385775T>G	ENST00000367339.1	-	4	731	c.703A>C	c.(703-705)Atc>Ctc	p.I235L	ULBP3_ENST00000438272.2_Missense_Mutation_p.I235L			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3	235					antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		CAGAGGATGATGAGGAAGCTC	0.532000													41	50					0	0	0.045515	0	0
ASIC4	55515	broad.mit.edu	37	2	220379743	220379743	+	Silent	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr2:220379743G>A	ENST00000358078.4	+	1	692	c.678G>A	c.(676-678)gtG>gtA	p.V226V	ASIC4_ENST00000347842.3_Silent_p.V226V|AC053503.11_ENST00000429882.1_RNA			Q96FT7	ACCN4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	226						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										CTCACCTGGTGGCAATGGACC	0.682000													16	21					0	0	0.049695	0	0
PLEC	5339	broad.mit.edu	37	8	144996895	144996895	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr8:144996895T>A	ENST00000322810.4	-	31	7782	c.7613A>T	c.(7612-7614)gAg>gTg	p.E2538V	PLEC_ENST00000356346.3_Missense_Mutation_p.E2387V|PLEC_ENST00000354958.2_Missense_Mutation_p.E2379V|PLEC_ENST00000354589.3_Missense_Mutation_p.E2401V|PLEC_ENST00000398774.2_Missense_Mutation_p.E2369V|PLEC_ENST00000357649.2_Missense_Mutation_p.E2405V|PLEC_ENST00000436759.2_Missense_Mutation_p.E2428V|PLEC_ENST00000345136.3_Missense_Mutation_p.E2401V|PLEC_ENST00000527096.1_Missense_Mutation_p.E2424V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2538	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTGGGCGTCCTCCTCAGCGCG	0.692000													20	7					0	0	0.049695	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28315771	28315771	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr21:28315771T>A	ENST00000284987.5	-	3	1454	c.1333A>T	c.(1333-1335)Agc>Tgc	p.S445C		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	445	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GCATCAATGCTGGTAAGGATG	0.448000													19	9					0	0	0.038395	0	0
LYPD4	147719	broad.mit.edu	37	19	42342153	42342153	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr19:42342153G>T	ENST00000330743.3	-	4	1605	c.394C>A	c.(394-396)Cct>Act	p.P132T	LYPD4_ENST00000343055.4_Missense_Mutation_p.P97T|LYPD4_ENST00000601246.1_Missense_Mutation_p.P97T	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	132						anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						ATAGACTTAGGAGTGCTGGCC	0.522000													17	85					3.41278e-10	4.02983e-10	0.033300	1	0
SLC22A1	6580	broad.mit.edu	37	6	160553392	160553392	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr6:160553392G>C	ENST00000366963.4	+	3	791	c.644G>C	c.(643-645)gGc>gCc	p.G215A	SLC22A1_ENST00000324965.4_Missense_Mutation_p.G215A|SLC22A1_ENST00000457470.2_Missense_Mutation_p.G215A	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	215						basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		GTCAGCAAGGGCAACTGGATG	0.582000													16	67					0	0	0.024245	0	0
RP11-44F14.1	0	broad.mit.edu	37	16	53403293	53403293	+	RNA	SNP	A	A	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr16:53403293A>G	ENST00000565421.1	-	0	1324																											gaaagaaaaTAGGGAAGATTT	0.413000													8	3					0	0	0.047766	0	0
PPFIA1	8500	broad.mit.edu	37	11	70194393	70194393	+	Nonsense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr11:70194393C>G	ENST00000253925.7	+	16	2245	c.2030C>G	c.(2029-2031)tCa>tGa	p.S677*	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Nonsense_Mutation_p.S677*	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	677					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CGTTTTAGATCAATGAGCTCC	0.542000													31	220					0	0	0.045705	0	0
UBAP2L	9898	broad.mit.edu	37	1	154218759	154218759	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:154218759C>G	ENST00000428931.1	+	11	1089	c.922C>G	c.(922-924)Cct>Gct	p.P308A	UBAP2L_ENST00000361546.2_Missense_Mutation_p.P308A|UBAP2L_ENST00000343815.6_Missense_Mutation_p.P308A|UBAP2L_ENST00000271877.7_Missense_Mutation_p.P319A	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	308					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GTCTCAGGCTCCTTCTCTGGC	0.483000													6	136					0	0	0.021553	0	0
JADE3	9767	broad.mit.edu	37	X	46913776	46913776	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chrX:46913776G>A	ENST00000218343.4	+	9	1487	c.1189G>A	c.(1189-1191)Gca>Aca	p.A397T	PHF16_ENST00000397189.1_Missense_Mutation_p.A397T	NM_014735.3	NP_055550.1	Q92613	JADE3_HUMAN		397					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						CAGCCTGCGGGCACAGAAGCT	0.547000													8	25					0	0	0.038147	0	0
LRRC7	57554	broad.mit.edu	37	1	70451993	70451993	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:70451993G>T	ENST00000310961.5	+	11	1174	c.756G>T	c.(754-756)atG>atT	p.M252I	LRRC7_ENST00000035383.5_Missense_Mutation_p.M247I|LRRC7_ENST00000415775.2_5'UTR			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	247						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CAGTTGACATGGACATTTCTG	0.358000													17	44					1.67942e-08	1.91468e-08	0.038395	1	0
HCN1	348980	broad.mit.edu	37	5	45645392	45645392	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr5:45645392G>T	ENST00000303230.4	-	2	801	c.744C>A	c.(742-744)taC>taA	p.Y248*		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	248						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGGCTGTCTTGTAAACTTCAG	0.358000													20	42					9.7654e-05	0.000103112	0.043863	1	0
ESF1	51575	broad.mit.edu	37	20	13756902	13756902	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr20:13756902T>G	ENST00000202816.1	-	3	759	c.652A>C	c.(652-654)Atg>Ctg	p.M218L		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TCTCTTGTCATTATGAGTTGA	0.353000													19	145					0	0	0.038395	0	0
FOS	2353	broad.mit.edu	37	14	75747933	75747933	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr14:75747933G>C	ENST00000303562.4	+	4	1158	c.949G>C	c.(949-951)Gcc>Ccc	p.A317P	FOS_ENST00000535987.1_Missense_Mutation_p.A281P|FOS_ENST00000555686.1_Missense_Mutation_p.A203P|FOS_ENST00000555347.1_Missense_Mutation_p.A169P	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog	317					cellular response to reactive oxygen species|DNA methylation|inflammatory response|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|SMAD protein signal transduction|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|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)		GGGGCCCATGGCCACAGAGCT	0.622000													9	140					0	0	0.008291	0	0
RYR2	6262	broad.mit.edu	37	1	237823330	237823330	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:237823330A>C	ENST00000366574.2	+	55	8571	c.8254A>C	c.(8254-8256)Aag>Cag	p.K2752Q	RYR2_ENST00000360064.6_Missense_Mutation_p.K2750Q|RYR2_ENST00000542537.1_Missense_Mutation_p.K2736Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2752	4 X approximate repeats.|Modulator (Potential).				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)			AGACTCTTCTAAGGTTCAGCC	0.279000													7	15					0	0	0.038147	0	0
GPC2	221914	broad.mit.edu	37	7	99769770	99769770	+	Silent	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr7:99769770C>A	ENST00000292377.2	-	6	1130	c.963G>T	c.(961-963)ggG>ggT	p.G321G	GPC2_ENST00000471050.1_5'UTR	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	321						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGATCTTCACCCCAATGGACT	0.582000													24	97					1.10513e-12	1.34704e-12	0.014323	1	0
ABRA	137735	broad.mit.edu	37	8	107782048	107782048	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr8:107782048A>T	ENST00000311955.3	-	1	425	c.371T>A	c.(370-372)gTg>gAg	p.V124E		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	124					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			GAGGTGGCTCACGTCCCCTCC	0.537000													9	136					0	0	0.047766	0	0
IGF2BP2	10644	broad.mit.edu	37	3	185369906	185369906	+	Silent	SNP	G	G	A	rs145090990		TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr3:185369906G>A	ENST00000382199.2	-	13	1532	c.1437C>T	c.(1435-1437)acC>acT	p.T479T	IGF2BP2_ENST00000421047.2_Silent_p.T422T|IGF2BP2_ENST00000346192.3_Silent_p.T436T|IGF2BP2_ENST00000457616.2_Silent_p.T485T|IGF2BP2_ENST00000494906.1_5'UTR	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	479	KH 3.				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			CCGGTGGCCCGGTGATGATGA	0.602000													11	66					0	0	0.013537	0	0
MMP24	10893	broad.mit.edu	37	20	33859374	33859374	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr20:33859374G>A	ENST00000246186.6	+	8	1421	c.1336G>A	c.(1336-1338)Gac>Aac	p.D446N	MMP24-AS1_ENST00000566203.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|RP4-614O4.11_ENST00000444717.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000453892.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	446	Hemopexin-like 2.				proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GGCCACAGGTGACAAGTATTG	0.592000													7	13					0	0	0.008291	0	0
HECTD1	25831	broad.mit.edu	37	14	31585576	31585576	+	Silent	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr14:31585576C>A	ENST00000399332.1	-	30	5972	c.5484G>T	c.(5482-5484)acG>acT	p.T1828T	HECTD1_ENST00000553700.1_Silent_p.T1828T	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1828					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CTTCACGAGTCGTTCCAAGAC	0.403000													43	87					6.2361e-21	8.22668e-21	0.030466	1	0
ZNF638	27332	broad.mit.edu	37	2	71590316	71590316	+	Silent	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr2:71590316G>A	ENST00000409544.1	+	4	2043	c.1413G>A	c.(1411-1413)tcG>tcA	p.S471S	ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000264447.4_Silent_p.S471S|ZNF638_ENST00000355812.3_Silent_p.S471S|ZNF638_ENST00000377802.2_Silent_p.S471S	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	471					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TCCTCCCATCGAGAAGGtaat	0.274000													7	22					0	0	0.029380	0	0
DHX9	1660	broad.mit.edu	37	1	182847304	182847304	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:182847304G>C	ENST00000367549.3	+	20	2457	c.2347G>C	c.(2347-2349)Gag>Cag	p.E783Q	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	783	Helicase C-terminal.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AGCTCGTTTTGAGAGGTAAGA	0.473000													29	52					0	0	0.037714	0	0
UNC5B	219699	broad.mit.edu	37	10	73053603	73053603	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr10:73053603G>T	ENST00000335350.6	+	13	2504	c.2088G>T	c.(2086-2088)caG>caT	p.Q696H	UNC5B_ENST00000373192.4_Missense_Mutation_p.Q685H	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	696					apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						AGCGGCTCCAGCTGGCCGTCT	0.662000													10	37					3.86212e-05	4.11079e-05	0.008291	1	0
USP21	27005	broad.mit.edu	37	1	161134865	161134865	+	Silent	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:161134865C>T	ENST00000368002.3	+	13	1916	c.1539C>T	c.(1537-1539)agC>agT	p.S513S	USP21_ENST00000487163.1_3'UTR|USP21_ENST00000289865.8_Silent_p.S513S|USP21_ENST00000368001.1_Silent_p.S499S	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	513					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.S513S(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			ACTCAGGCAGCGTCCACTATG	0.537000													6	103					0	0	0.029380	0	0
SCAF8	22828	broad.mit.edu	37	6	155141314	155141314	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr6:155141314G>T	ENST00000367178.3	+	15	2215	c.1639G>T	c.(1639-1641)Gct>Tct	p.A547S	SCAF8_ENST00000367186.4_Missense_Mutation_p.A613S|SCAF8_ENST00000417268.1_Missense_Mutation_p.A547S	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	547	RRM.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						ACAATAGATCGCTTGGGCTTT	0.299000													12	22					3.07112e-06	3.34973e-06	0.010729	1	0
RPA3	6119	broad.mit.edu	37	7	7680006	7680006	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr7:7680006C>G	ENST00000223129.4	-	5	1215	c.44G>C	c.(43-45)gGc>gCc	p.G15A	RPA3_ENST00000396682.2_Missense_Mutation_p.G15A|RPA3_ENST00000406109.1_Intron	NM_002947.3	NP_002938.1	P35244	RFA3_HUMAN	replication protein A3, 14kDa	15					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	cytoplasm|DNA replication factor A complex|nucleoplasm	protein binding|single-stranded DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.202)		AGCTAGCATGCCGGCGTTGAT	0.582000								Direct reversal of damage;Nucleotide excision repair (NER)					44	101					0	0	0.042209	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530220	80530220	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr2:80530220C>A	ENST00000295057.3	-	2	1381	c.725G>T	c.(724-726)aGg>aTg	p.R242M	CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.R242M|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	242						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CACCTTGTTCCTCCGCAGGCA	0.577000										HNSCC(69;0.2)			17	50					2.94398e-08	3.34918e-08	0.043863	1	0
CPAMD8	27151	broad.mit.edu	37	19	17025618	17025618	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr19:17025618G>A	ENST00000443236.1	-	28	3807	c.3776C>T	c.(3775-3777)aCa>aTa	p.T1259I		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1212						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GACAAAGGCTGtgagcctgaa	0.617000													16	9					0	0	0.028581	0	0
NOTCH3	4854	broad.mit.edu	37	19	15302287	15302287	+	Silent	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr19:15302287G>C	ENST00000263388.2	-	6	1059	c.984C>G	c.(982-984)acC>acG	p.T328T		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	328	EGF-like 8; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GGTCATGGCAGGTGGCCCCAT	0.582000													13	9					0	0	0.016723	0	0
BSND	7809	broad.mit.edu	37	1	55470717	55470717	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:55470717C>A	ENST00000371265.4	+	2	454	c.200C>A	c.(199-201)tCt>tAt	p.S67Y		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	Bartter syndrome, infantile, with sensorineural deafness (Barttin)	67						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						CCTGCTGACTCTGACTTTCAA	0.592000													31	105					1.08052e-11	1.29028e-11	0.019004	1	0
RB1	5925	broad.mit.edu	37	13	49027249	49027249	+	Splice_Site	SNP	T	T	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr13:49027249T>A	ENST00000267163.4	+	18	1952		c.e18+2			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGCAGATATGTAAGCAAAATA	0.338000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			43	28					0	0	0.039052	0	0
MARS2	92935	broad.mit.edu	37	2	198570480	198570480	+	Silent	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr2:198570480C>G	ENST00000282276.6	+	1	394	c.351C>G	c.(349-351)gtC>gtG	p.V117V	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	117					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	GCGACCGAGTCTCTGAGCAGT	0.647000													9	66					0	0	0.047766	0	0
ATP2B4	493	broad.mit.edu	37	1	203680201	203680201	+	Missense_Mutation	SNP	G	G	A	rs138521935	byFrequency	TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:203680201G>A	ENST00000357681.5	+	12	3119	c.1996G>A	c.(1996-1998)Gcg>Acg	p.A666T	ATP2B4_ENST00000341360.2_Missense_Mutation_p.A666T|ATP2B4_ENST00000367219.3_Missense_Mutation_p.A654T|ATP2B4_ENST00000367218.3_Missense_Mutation_p.A666T|ATP2B4_ENST00000391954.2_Missense_Mutation_p.A666T	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	666					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GACCTGTATCGCGGTGGTGGG	0.557000													32	73					0	0	0.050027	0	0
OR6K3	391114	broad.mit.edu	37	1	158687120	158687120	+	Missense_Mutation	SNP	G	G	T	rs146136418	by1000genomes	TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:158687120G>T	ENST00000368146.1	-	1	833	c.834C>A	c.(832-834)agC>agA	p.S278R	OR6K3_ENST00000368145.1_Missense_Mutation_p.S262R			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					GATAAGTGTCGCTGAAACGCA	0.453000													53	100					7.34454e-26	9.88617e-26	0.048971	1	0
CSMD2	114784	broad.mit.edu	37	1	34383741	34383741	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:34383741C>T	ENST00000373381.4	-	5	1050	c.874G>A	c.(874-876)Ggt>Agt	p.G292S		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	252	CUB 2.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AAGTCGTAACCATCCTCCAGC	0.527000													48	42					0	0	0.045515	0	0
UBE2E2	7325	broad.mit.edu	37	3	23250261	23250261	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr3:23250261G>A	ENST00000396703.1	+	2	251	c.71G>A	c.(70-72)cGt>cAt	p.R24H	UBE2E2_ENST00000425792.1_Missense_Mutation_p.R24H	NM_152653.3	NP_689866.1	Q96LR5	UB2E2_HUMAN	ubiquitin-conjugating enzyme E2E 2	24					ISG15-protein conjugation|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination	nucleolus	ATP binding|ISG15 ligase activity|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(2)	10						GGAGATCAACGTGAAAGTGTT	0.418000													11	42					0	0	0.010729	0	0
MDN1	23195	broad.mit.edu	37	6	90354758	90354758	+	Silent	SNP	A	A	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr6:90354758A>C	ENST00000369393.3	-	101	16693	c.16578T>G	c.(16576-16578)gtT>gtG	p.V5526V	MDN1_ENST00000428876.1_Silent_p.V5526V			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5526	VWFA.				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)		TGTCCAATACAACAAAGATGA	0.473000													4	79					0	0	0.014758	0	0
TMEM175	84286	broad.mit.edu	37	4	946154	946154	+	Splice_Site	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr4:946154G>A	ENST00000264771.4	+	7	563		c.e7-1		TMEM175_ENST00000515740.1_Splice_Site|TMEM175_ENST00000504180.1_Splice_Site|TMEM175_ENST00000508204.1_Splice_Site	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175							integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TGTTTTAACAGTTTTCGTTAA	0.562000													6	86					0	0	0.029380	0	0
CDK12	51755	broad.mit.edu	37	17	37687195	37687195	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr17:37687195G>A	ENST00000447079.4	+	14	4132	c.4099G>A	c.(4099-4101)Gtc>Atc	p.V1367I	CDK12_ENST00000430627.2_Missense_Mutation_p.V1358I	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1367					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	p.V1367L(1)		NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AGAATCCTTGGTCCAGACCCT	0.537000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			20	55					0	0	0.049695	0	0
IGHV3-20	28445	broad.mit.edu	37	14	106667841	106667841	+	RNA	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr14:106667841C>G	ENST00000390606.2	-	0	152																											CCAGGCCGTACCACACCTCCC	0.577000													39	148					0	0	0.033182	0	0
COCH	1690	broad.mit.edu	37	14	31348048	31348048	+	Silent	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr14:31348048C>A	ENST00000396618.3	+	5	327	c.271C>A	c.(271-273)Cga>Aga	p.R91R	RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000216361.4_Silent_p.R91R|COCH_ENST00000460581.2_5'UTR|COCH_ENST00000475087.1_Silent_p.R91R	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	91	LCCL.				sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		GGGACCTGTACGAGTCTATAG	0.463000													28	56					1.17739e-12	1.43182e-12	0.027356	1	0
IMPA1	3612	broad.mit.edu	37	8	82572881	82572881	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr8:82572881T>A	ENST00000311489.4	-	7	552	c.479A>T	c.(478-480)cAg>cTg	p.Q160L	IMPA1_ENST00000256108.5_Silent_p.A196A|IMPA1_ENST00000523710.1_5'UTR|IMPA1_ENST00000449740.2_Silent_p.A255A	NM_001144879.1	NP_001138351.1	P29218	IMPA1_HUMAN	inositol(myo)-1(or 4)-monophosphatase 1	0					inositol phosphate dephosphorylation|phosphatidylinositol biosynthetic process|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity	p.A196A(1)		NS(1)|cervix(1)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|stomach(1)	18					Lithium(DB01356)	TATTAACAGCTGCTGTTCCAA	0.383000													4	63					0	0	0.014758	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553818	140553818	+	Silent	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr5:140553818C>T	ENST00000231137.3	+	1	1576	c.1402C>T	c.(1402-1404)Ctg>Ttg	p.L468L		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		468	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L468M(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGCCCCGCCCTGCCCATCGG	0.632000													76	67					0	0	0.048971	0	0
GCG	2641	broad.mit.edu	37	2	163003967	163003967	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr2:163003967G>T	ENST00000418842.2	-	3	404	c.150C>A	c.(148-150)gaC>gaA	p.D50E	GCG_ENST00000375497.3_Missense_Mutation_p.D50E	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	50					cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14					Exenatide(DB01276)|Phentolamine(DB00692)	AATGGCGCTTGTCCTCGTTCA	0.483000													42	199					2.47872e-24	3.32803e-24	0.039052	1	0
CTDP1	9150	broad.mit.edu	37	18	77455230	77455230	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr18:77455230T>C	ENST00000299543.7	+	2	467	c.320T>C	c.(319-321)gTt>gCt	p.V107A	CTDP1_ENST00000075430.7_Missense_Mutation_p.V107A	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	107					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		TGTAGAGCGGTTCTGGTGAGG	0.443000													11	44					0	0	0.024245	0	0
FARP1	10160	broad.mit.edu	37	13	99047614	99047614	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr13:99047614G>T	ENST00000376586.2	+	13	1634	c.1298G>T	c.(1297-1299)aGc>aTc	p.S433I	FARP1_ENST00000319562.6_Missense_Mutation_p.S433I|FARP1_ENST00000595437.1_Missense_Mutation_p.S433I			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	433					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CCGAGGAGAAGCCCCGCGGGT	0.687000													16	51					6.94344e-10	8.12629e-10	0.038395	1	0
SHOX2	6474	broad.mit.edu	37	3	157823740	157823740	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr3:157823740T>C	ENST00000389589.4	-	1	209	c.74A>G	c.(73-75)tAc>tGc	p.Y25C	RSRC1_ENST00000480820.1_5'UTR|SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000441443.2_5'UTR|SHOX2_ENST00000483851.2_Missense_Mutation_p.Y25C|SHOX2_ENST00000425436.3_Missense_Mutation_p.Y25C	NM_003030.4	NP_003021.3	O60902	SHOX2_HUMAN	short stature homeobox 2	25					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CACCTCCCGGTACGTGATCGC	0.687000													6	62					0	0	0.029380	0	0
BTN3A1	11119	broad.mit.edu	37	6	26413844	26413844	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr6:26413844C>G	ENST00000289361.6	+	10	1834	c.1466C>G	c.(1465-1467)tCc>tGc	p.S489C	BTN3A1_ENST00000414912.2_Missense_Mutation_p.S437C	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	489	B30.2/SPRY.				lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CTGGACGTCTCCTTCTCTGAG	0.468000													45	69					0	0	0.045515	0	0
EGFL6	25975	broad.mit.edu	37	X	13588024	13588024	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chrX:13588024G>T	ENST00000361306.1	+	1	301	c.44G>T	c.(43-45)tGg>tTg	p.W15L	EGFL6_ENST00000380602.3_Missense_Mutation_p.W15L	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	15					cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						CTGCTCTCCTGGGTGGCAGGT	0.701000													11	9					9.70103e-10	1.13036e-09	0.008291	1	0
REEP1	65055	broad.mit.edu	37	2	86509304	86509304	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr2:86509304T>C	ENST00000165698.5	-	2	237	c.94A>G	c.(94-96)Att>Gtt	p.I32V	REEP1_ENST00000541910.1_Missense_Mutation_p.I32V|REEP1_ENST00000540790.1_5'UTR|REEP1_ENST00000473407.1_5'UTR|REEP1_ENST00000538924.1_Missense_Mutation_p.I39V|REEP1_ENST00000535845.1_Intron	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN	receptor accessory protein 1	32					cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						TATTCCTTAATGTCCTTTGAT	0.443000													59	229					0	0	0.048971	0	0
UNC79	57578	broad.mit.edu	37	14	94083493	94083493	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr14:94083493G>C	ENST00000553484.1	+	29	4287	c.4133G>C	c.(4132-4134)gGa>gCa	p.G1378A	UNC79_ENST00000256339.4_Missense_Mutation_p.G1179A|UNC79_ENST00000393151.2_Missense_Mutation_p.G1356A|UNC79_ENST00000555664.1_Missense_Mutation_p.G1356A			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1356						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ATTAACTTGGGAAAACACCTT	0.413000													8	101					0	0	0.047766	0	0
OR10J3	441911	broad.mit.edu	37	1	159284311	159284311	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:159284311T>C	ENST00000332217.5	-	1	138	c.139A>G	c.(139-141)Atg>Gtg	p.M47V		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					ATAATGGTCATGATAATCACA	0.473000													21	207					0	0	0.055883	0	0
TP53	7157	broad.mit.edu	37	17	7574021	7574021	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr17:7574021C>A	ENST00000269305.4	-	10	1195	c.1006G>T	c.(1006-1008)Gag>Tag	p.E336*	TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.E336*|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000455263.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	336	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.				activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.E336*(5)|p.I332fs*5(1)|p.E336fs*12(1)|p.?(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)		TCGAAGCGCTCACGCCCACGG	0.517000		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)			11	16					1.58986e-06	1.75216e-06	0.008291	1	0
C17orf49	124944	broad.mit.edu	37	17	6918444	6918444	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr17:6918444C>G	ENST00000546495.1	+	2	448	c.85C>G	c.(85-87)Ctg>Gtg	p.L29V	RNASEK-C17orf49_ENST00000607129.1_Missense_Mutation_p.L29V|RNASEK-C17orf49_ENST00000606880.1_Missense_Mutation_p.L29V|C17orf49_ENST00000546760.1_Missense_Mutation_p.L29V|C17orf49_ENST00000552402.1_Missense_Mutation_p.L29V|RP11-589P10.7_ENST00000572547.1_RNA|C17orf49_ENST00000552775.1_Missense_Mutation_p.L3V|C17orf49_ENST00000439424.2_Missense_Mutation_p.L29V			Q8IXM2	BAP18_HUMAN	chromosome 17 open reading frame 49	29					chromatin modification	MLL1 complex|NURF complex	DNA binding			kidney(1)|large_intestine(2)|ovary(1)	4						GACGATGCAGCTGCATCCCGT	0.721000													3	11					0	0	0.009096	0	0
CDH22	64405	broad.mit.edu	37	20	44841810	44841810	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr20:44841810T>A	ENST00000372262.3	-	5	1256	c.856A>T	c.(856-858)Atc>Ttc	p.I286F	CDH22_ENST00000474438.1_5'UTR|CDH22_ENST00000537909.1_Missense_Mutation_p.I286F	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	286	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GACTCCTGGATGCTGAACTGG	0.607000													9	58					0	0	0.006214	0	0
ST6GAL1	6480	broad.mit.edu	37	3	186760866	186760866	+	Silent	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr3:186760866C>G	ENST00000169298.3	+	4	1049	c.375C>G	c.(373-375)tcC>tcG	p.S125S	ST6GAL1_ENST00000448044.1_Silent_p.S125S|ST6GAL1_ENST00000457772.2_Intron	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	125					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		ACAAAGTGTCCTACAAGGGGC	0.502000													11	134					0	0	0.008291	0	0
FKBP10	60681	broad.mit.edu	37	17	39976649	39976649	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr17:39976649C>A	ENST00000321562.4	+	7	1296	c.1192C>A	c.(1192-1194)Ctt>Att	p.L398I	FKBP10_ENST00000544340.1_Missense_Mutation_p.L171I	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	398					protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		GACCACCAAGCTTGGGGACTT	0.572000													14	220					0.00244969	0.00252118	0.020292	1	0
ZNF804A	91752	broad.mit.edu	37	2	185802398	185802398	+	Missense_Mutation	SNP	A	A	T	rs116133259	byFrequency	TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr2:185802398A>T	ENST00000302277.6	+	4	2869	c.2275A>T	c.(2275-2277)Aat>Tat	p.N759Y		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	759						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AAGAGGTTACAATTCTGTCAT	0.338000													14	60					0	0	0.020292	0	0
ZYX	7791	broad.mit.edu	37	7	143085736	143085736	+	Silent	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr7:143085736C>T	ENST00000322764.5	+	7	1644	c.1299C>T	c.(1297-1299)tgC>tgT	p.C433C	ZYX_ENST00000449423.2_Silent_p.C346C|ZYX_ENST00000392910.2_Silent_p.C276C	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	433	LIM zinc-binding 1.				cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					CGCCGTACTGCGAGGGCTGTT	0.657000													14	93					0	0	0.033300	0	0
SLC22A8	9376	broad.mit.edu	37	11	62760801	62760801	+	Silent	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr11:62760801G>T	ENST00000336232.2	-	11	1672	c.1537C>A	c.(1537-1539)Cgg>Agg	p.R513R	SLC22A8_ENST00000535878.1_Silent_p.R390R|SLC22A8_ENST00000545207.1_Silent_p.R422R|SLC22A8_ENST00000430500.2_Silent_p.R513R|SLC22A8_ENST00000311438.8_3'UTR	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	513					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						TTCTTTGCCCGCAGGGACCTA	0.617000													10	36					0.000673444	0.000698533	0.008291	1	0
DPYS	1807	broad.mit.edu	37	8	105393464	105393464	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr8:105393464C>A	ENST00000351513.2	-	9	1654	c.1522G>T	c.(1522-1524)Gat>Tat	p.D508Y	DPYS_ENST00000521601.1_5'UTR	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	508					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GCTGTGGCATCTTCTTTTGTC	0.502000													42	33					2.95478e-19	3.83107e-19	0.033182	1	0
NTM	50863	broad.mit.edu	37	11	132082002	132082002	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr11:132082002C>G	ENST00000374786.1	+	3	966	c.487C>G	c.(487-489)Cca>Gca	p.P163A	NTM_ENST00000425719.2_Missense_Mutation_p.P163A|NTM_ENST00000427481.2_Missense_Mutation_p.P154A|NTM_ENST00000374784.1_Missense_Mutation_p.P163A|NTM_ENST00000374791.3_Missense_Mutation_p.P163A|NTM_ENST00000539799.1_Missense_Mutation_p.P163A|NTM_ENST00000474900.1_3'UTR	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	163	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						AACTGGTAGACCAGAGCCTAC	0.423000													33	28					0	0	0.054565	0	0
OR6F1	343169	broad.mit.edu	37	1	247875476	247875476	+	Silent	SNP	T	T	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:247875476T>G	ENST00000302084.2	-	1	629	c.582A>C	c.(580-582)gcA>gcC	p.A194A	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CAAGCTCTACTGCCTGTGTGT	0.532000													22	152					0	0	0.016522	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53653061	53653061	+	Silent	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr16:53653061G>T	ENST00000262135.4	-	22	3345	c.3252C>A	c.(3250-3252)acC>acA	p.T1084T	RPGRIP1L_ENST00000564374.1_Silent_p.T1118T|RPGRIP1L_ENST00000563746.1_Silent_p.T1130T|RPGRIP1L_ENST00000379925.3_Silent_p.T1164T	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	1164					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TGTCATCCATGGTTACTTGAG	0.398000													24	83					1.85244e-09	2.14429e-09	0.018920	1	0
TMEM132D	121256	broad.mit.edu	37	12	130184785	130184785	+	Silent	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr12:130184785G>T	ENST00000422113.2	-	2	864	c.538C>A	c.(538-540)Cgg>Agg	p.R180R		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	180						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CAGCTGCCCCGCACCTCTCGG	0.687000													19	25					7.45023e-12	8.93689e-12	0.055883	1	0
FUBP1	8880	broad.mit.edu	37	1	78430915	78430915	+	Splice_Site	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:78430915C>G	ENST00000370767.1	-	8	561	c.473_splice	c.e8-1	p.Q158_splice	FUBP1_ENST00000370768.2_Splice_Site_p.Q158_splice|FUBP1_ENST00000436586.2_Splice_Site_p.Q179_splice			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	158	KH 1.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GTTTTGCTGACCTGTTAACAA	0.383000			"""F, N"""		oligodendroglioma								4	106					0	0	0.009096	0	0
COL27A1	85301	broad.mit.edu	37	9	116930943	116930943	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr9:116930943A>T	ENST00000356083.3	+	3	1499	c.1108A>T	c.(1108-1110)Acc>Tcc	p.T370S		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	370	Pro-rich.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						AAGCCTCCCTACCAAGCCTTC	0.557000													52	34					0	0	0.048971	0	0
PTPRF	5792	broad.mit.edu	37	1	44044570	44044570	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:44044570C>T	ENST00000359947.4	+	7	998	c.658C>T	c.(658-660)Cct>Tct	p.P220S	PTPRF_ENST00000372414.3_Missense_Mutation_p.P220S|PTPRF_ENST00000372413.3_Missense_Mutation_p.P220S|PTPRF_ENST00000438120.1_Missense_Mutation_p.P220S	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	220	Ig-like C2-type 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTACTCAGCCCCTGCGAACCT	0.607000													16	90					0	0	0.043863	0	0
SOX5	6660	broad.mit.edu	37	12	23687239	23687239	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr12:23687239A>G	ENST00000546136.1	-	14	2169	c.2167T>C	c.(2167-2169)Tat>Cat	p.Y723H	SOX5_ENST00000545921.1_Missense_Mutation_p.Y726H|SOX5_ENST00000309359.1_Missense_Mutation_p.Y723H|SOX5_ENST00000381381.2_Missense_Mutation_p.Y615H|SOX5_ENST00000396007.2_Missense_Mutation_p.Y350H|SOX5_ENST00000541536.1_Missense_Mutation_p.Y615H|SOX5_ENST00000537393.1_Missense_Mutation_p.Y701H|SOX5_ENST00000451604.2_Missense_Mutation_p.Y736H			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	736					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TACTCATCATAAATTTCTCCA	0.453000													37	98					0	0	0.019004	0	0
COL11A2	1302	broad.mit.edu	37	6	33144983	33144983	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr6:33144983C>A	ENST00000341947.2	-	24	2218	c.1991G>T	c.(1990-1992)gGt>gTt	p.G664V	COL11A2_ENST00000374713.1_Missense_Mutation_p.G617V|COL11A2_ENST00000357486.1_Missense_Mutation_p.G643V|COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000361917.1_Missense_Mutation_p.G557V|COL11A2_ENST00000395197.1_Missense_Mutation_p.G604V|COL11A2_ENST00000374714.1_Missense_Mutation_p.G638V|COL11A2_ENST00000374712.1_Missense_Mutation_p.G583V|COL11A2_ENST00000374708.4_Missense_Mutation_p.G578V	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	664	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GCCGATGGCACCCTGGGGCCC	0.552000													9	38					0.000442599	0.000462718	0.006214	1	0
DNAH7	56171	broad.mit.edu	37	2	196786861	196786861	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr2:196786861C>G	ENST00000312428.6	-	24	3986	c.3886G>C	c.(3886-3888)Ggt>Cgt	p.G1296R		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1296	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GGGGAATTACCCAGATATTCA	0.328000													16	16					0	0	0.028581	0	0
WRAP53	55135	broad.mit.edu	37	17	7606311	7606311	+	Splice_Site	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr17:7606311G>C	ENST00000316024.5	+	9	3617	c.1268_splice	c.e9-1	p.P423_splice	WRAP53_ENST00000431639.2_Splice_Site_p.P423_splice|WRAP53_ENST00000457584.2_Splice_Site_p.P423_splice|WRAP53_ENST00000396463.2_Splice_Site_p.P423_splice|WRAP53_ENST00000534050.1_Splice_Site_p.P390_splice			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	423					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						TCTCTCGCAGGACCGGGCAGT	0.642000													4	45					0	0	0.009096	0	0
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G	rs138671696	by1000genomes	TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1																						AAAATTCCACAAGTCTCTTGG	0.373000													7	146					0	0	0.029380	0	0
IPO5	3843	broad.mit.edu	37	13	98645422	98645422	+	Missense_Mutation	SNP	C	C	G	rs1053814		TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr13:98645422C>G	ENST00000261574.5	+	11	1090	c.910C>G	c.(910-912)Ctc>Gtc	p.L304V	IPO5_ENST00000490680.1_Missense_Mutation_p.L286V|IPO5_ENST00000539640.1_Missense_Mutation_p.L161V	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	286					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GATCGTCACCCTCTCTGAGAC	0.388000													5	65					0	0	0.029380	0	0
SLC22A13	9390	broad.mit.edu	37	3	38317787	38317787	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr3:38317787T>A	ENST00000311856.4	+	8	1296	c.1247T>A	c.(1246-1248)gTg>gAg	p.V416E	SLC22A13_ENST00000450935.2_3'UTR	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	416						integral to plasma membrane	organic cation transmembrane transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		GATCTGCCCGTGGTGGTCACC	0.627000													3	40					0	0	0.009096	0	0
KIF20B	9585	broad.mit.edu	37	10	91478615	91478615	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr10:91478615G>A	ENST00000416354.1	+	12	1492	c.1420G>A	c.(1420-1422)Gcc>Acc	p.A474T	KIF20B_ENST00000371728.3_Missense_Mutation_p.A474T|KIF20B_ENST00000260753.4_Missense_Mutation_p.A474T|KIF20B_ENST00000394289.2_Missense_Mutation_p.A474T			Q96Q89	KI20B_HUMAN	kinesin family member 20B	474					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GAAGTTCTCCGCCATTGCACA	0.254000													9	30					0	0	0.047766	0	0
FAM83C	128876	broad.mit.edu	37	20	33874536	33874536	+	Silent	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr20:33874536G>T	ENST00000374408.3	-	4	2142	c.2046C>A	c.(2044-2046)ctC>ctA	p.L682L		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	682										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			ACTTGGTGATGAGGTCCAGCT	0.612000													6	80					3.59834e-05	3.83774e-05	0.021553	1	0
COL1A1	1277	broad.mit.edu	37	17	48271957	48271957	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr17:48271957C>T	ENST00000225964.5	-	22	1610	c.1492G>A	c.(1492-1494)Gca>Aca	p.A498T		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	498	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	ACACCATCTGCGCCAGGGAAA	0.647000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						5	3					0	0	0.014758	0	0
XIRP1	165904	broad.mit.edu	37	3	39230333	39230333	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr3:39230333G>T	ENST00000340369.3	-	2	832	c.604C>A	c.(604-606)Cgc>Agc	p.R202S	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.R202S	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	202							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GAGCCCAGGCGGTCCAGCGGC	0.622000													41	15					7.63091e-17	9.72711e-17	0.030466	1	0
PALB2	79728	broad.mit.edu	37	16	23652474	23652474	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr16:23652474T>C	ENST00000261584.4	-	1	157	c.5A>G	c.(4-6)gAc>gGc	p.D2G		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	2	Interaction with BRCA1.|Interaction with RAD51.|Required for its oligomerization and is important for its focal concentration at DNA damage sites.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		GGGAGGCTCGTCCATCGGGCA	0.697000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					4	13					0	0	0.014758	0	0
OR4C13	283092	broad.mit.edu	37	11	49974019	49974019	+	Silent	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr11:49974019T>C	ENST00000555099.1	+	1	77	c.45T>C	c.(43-45)ctT>ctC	p.L15L		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TATTGGGGCTTACAGAGAATC	0.328000													11	120					0	0	0.008291	0	0
OR51F1	256892	broad.mit.edu	37	11	4790412	4790412	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr11:4790412G>T	ENST00000380383.1	-	1	756	c.757C>A	c.(757-759)Cat>Aat	p.H253N	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.H246N			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	246						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		GCTCCCACATGGGAGACACAG	0.493000													5	93					0.00116845	0.0012096	0.021553	1	0
BAI3	577	broad.mit.edu	37	6	69348701	69348701	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr6:69348701G>T	ENST00000370598.1	+	3	955	c.134G>T	c.(133-135)aGt>aTt	p.S45I		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	45	CUB.				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)				TATTCTGTAAGTGAAATGTTT	0.378000													31	41					1.16021e-09	1.3489e-09	0.034045	1	0
SCN7A	6332	broad.mit.edu	37	2	167284299	167284299	+	Splice_Site	SNP	A	A	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr2:167284299A>T	ENST00000409855.1	-	17	2978	c.2853_splice	c.e17+1	p.L951_splice		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	951					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CCCACTTACCAGAGTGCCAGT	0.413000													12	12					0	0	0.013537	0	0
OR5T1	390155	broad.mit.edu	37	11	56044051	56044051	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr11:56044051A>T	ENST00000313033.2	+	1	1023	c.937A>T	c.(937-939)Atc>Ttc	p.I313F		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	313					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					AAAGGAGGCAATCAAAAGATT	0.343000													49	56					0	0	0.048971	0	0
NOL6	65083	broad.mit.edu	37	9	33472115	33472115	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr9:33472115C>A	ENST00000379471.2	-	3	352	c.265G>T	c.(265-267)Gag>Tag	p.E89*	NOL6_ENST00000464829.1_5'UTR|NOL6_ENST00000455041.2_Nonsense_Mutation_p.E89*			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	89					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		AGTAGCTCCTCTACCTGTAAG	0.517000													34	80					2.20474e-14	2.75072e-14	0.017118	1	0
FCN1	2219	broad.mit.edu	37	9	137809690	137809690	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr9:137809690G>A	ENST00000371806.3	-	1	119	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	10					opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		GCGAGCCCCCGGGCCATGGTG	0.592000													3	51					0	0	0.009096	0	0
KRTAP10-9	386676	broad.mit.edu	37	21	46047672	46047672	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr21:46047672C>A	ENST00000397911.3	+	1	633	c.584C>A	c.(583-585)cCc>cAc	p.P195H	KRTAP10-9_ENST00000484861.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	195	25 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						TGCTGCAAACCCATCTGCTGT	0.617000													188	213					2.78517e-91	3.96063e-91	0.048971	1	0
ASXL1	171023	broad.mit.edu	37	20	31024776	31024776	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr20:31024776C>T	ENST00000375687.4	+	13	4685	c.4261C>T	c.(4261-4263)Ctc>Ttc	p.L1421F	ASXL1_ENST00000306058.5_Missense_Mutation_p.L1416F	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	1421					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AGGGAAGGGGCTCAGTGAGCC	0.537000			"""F, N, Mis"""		"""MDS, CMML"""								48	128					0	0	0.048971	0	0
NLRP5	126206	broad.mit.edu	37	19	56539602	56539602	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr19:56539602G>T	ENST00000390649.3	+	7	2003	c.2003G>T	c.(2002-2004)tGg>tTg	p.W668L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	668						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTTCTGCACTGGGTCTCTCTG	0.577000													38	79					9.62906e-15	1.20705e-14	0.025465	1	0
FAM105B	90268	broad.mit.edu	37	5	14681619	14681619	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr5:14681619G>T	ENST00000284274.4	+	4	449	c.371G>T	c.(370-372)cGt>cTt	p.R124L		NM_138348.4	NP_612357.4	Q96BN8	F105B_HUMAN	family with sequence similarity 105, member B	124										breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					CGGCGAGTCCGTGGTGATAAT	0.542000													58	103					9.53978e-28	1.29731e-27	0.048971	1	0
C7orf55-LUC7L2	100996928	broad.mit.edu	37	7	139060838	139060838	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr7:139060838G>T	ENST00000354926.4	+	2	446	c.92G>T	c.(91-93)aGt>aTt	p.S31I	C7orf55-LUC7L2_ENST00000263545.6_Missense_Mutation_p.S30I|LUC7L2_ENST00000541515.3_Missense_Mutation_p.S97I|C7orf55-LUC7L2_ENST00000541170.3_Missense_Mutation_p.S28I	NM_016019.3	NP_057103.2																					ATCAAATTCAGTGATGACAGA	0.353000													11	88					1.49906e-05	1.60852e-05	0.020292	1	0
FRG2	448831	broad.mit.edu	37	4	190947540	190947540	+	Splice_Site	SNP	T	T	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr4:190947540T>G	ENST00000504750.1	-	3	382	c.334_splice	c.e3+1	p.A111_splice	FRG2_ENST00000378763.1_Splice_Site_p.A110_splice			Q64ET8	FRG2_HUMAN	FSHD region gene 2	110						nucleus				large_intestine(1)|lung(3)|ovary(2)|skin(1)	7		all_cancers(14;1.01e-50)|all_epithelial(14;6.7e-35)|all_lung(41;2.17e-14)|Lung NSC(41;4.95e-14)|Breast(6;3.4e-05)|Melanoma(20;0.000539)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|all_hematologic(60;0.0489)|Prostate(90;0.0513)		all cancers(3;3.83e-31)|Epithelial(3;1.36e-30)|OV - Ovarian serous cystadenocarcinoma(60;1.99e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00831)|READ - Rectum adenocarcinoma(43;0.155)		AGATTCTACCTGCTGTGTCTT	0.433000													37	28					0	0	0.045515	0	0
CUBN	8029	broad.mit.edu	37	10	16989299	16989299	+	Silent	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr10:16989299G>A	ENST00000377833.4	-	36	5342	c.5277C>T	c.(5275-5277)ccC>ccT	p.P1759P		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1759	CUB 12.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCACATTAGGGGGATAAATGT	0.443000													12	34					0	0	0.013537	0	0
TAF4B	6875	broad.mit.edu	37	18	23895283	23895283	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr18:23895283G>C	ENST00000269142.5	+	10	2921	c.1923G>C	c.(1921-1923)ttG>ttC	p.L641F	TAF4B_ENST00000578121.1_Missense_Mutation_p.L646F	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	641					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			ACTCTGAATTGGTTGGCACAC	0.358000													3	49					0	0	0.009096	0	0
IFT46	56912	broad.mit.edu	37	11	118422957	118422957	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr11:118422957T>C	ENST00000264020.2	-	9	1107	c.730A>G	c.(730-732)Aag>Gag	p.K244E	IFT46_ENST00000530872.1_Missense_Mutation_p.K244E|IFT46_ENST00000264021.3_Missense_Mutation_p.K193E	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46 homolog (Chlamydomonas)	193					flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						GCAGGGGGCTTAGAACGGTGT	0.433000													67	102					0	0	0.048971	0	0
MYH2	4620	broad.mit.edu	37	17	10442569	10442569	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr17:10442569G>T	ENST00000245503.5	-	14	1753	c.1369C>A	c.(1369-1371)Cag>Aag	p.Q457K	CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Missense_Mutation_p.Q457K|MYH2_ENST00000397183.2_Missense_Mutation_p.Q457K	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	457	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ATGAAGTACTGCCTGGGCTGC	0.493000													42	121					4.32679e-17	5.52868e-17	0.027894	1	0
AKNAD1	254268	broad.mit.edu	37	1	109394807	109394807	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:109394807C>A	ENST00000370001.3	-	2	748	c.480G>T	c.(478-480)tgG>tgT	p.W160C	AKNAD1_ENST00000369994.1_Missense_Mutation_p.W160C|AKNAD1_ENST00000369995.3_Missense_Mutation_p.W160C|AKNAD1_ENST00000357393.4_Intron	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	160										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						GTTCTTTTGGCCAAGAATTCT	0.403000													25	70					4.26978e-12	5.13344e-12	0.018920	1	0
ZNF135	7694	broad.mit.edu	37	19	58578995	58578995	+	Silent	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr19:58578995C>T	ENST00000506786.1	+	5	1571	c.1017C>T	c.(1015-1017)ccC>ccT	p.P339P	ZNF135_ENST00000313434.5_Silent_p.P381P|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000511556.1_Silent_p.P393P|ZNF135_ENST00000439855.2_Silent_p.P381P|ZNF135_ENST00000401053.4_Silent_p.P405P			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	393					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		GGGAGAAGCCCTACGAGTGCC	0.542000													20	66					0	0	0.049695	0	0
CAMTA1	23261	broad.mit.edu	37	1	7309632	7309632	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:7309632A>T	ENST00000303635.7	+	5	591	c.384A>T	c.(382-384)aaA>aaT	p.K128N	CAMTA1_ENST00000439411.2_Missense_Mutation_p.K128N	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		AAAAGAGGAAAGATGGGAAAA	0.438000			T	WWTR1	epitheliod hemangioendothelioma								3	40					0	0	0.004672	0	0
MCU	90550	broad.mit.edu	37	10	74631209	74631209	+	Silent	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr10:74631209C>G	ENST00000536019.1	+	6	1030	c.585C>G	c.(583-585)gcC>gcG	p.A195A	MCU_ENST00000373053.3_Silent_p.A244A|MCU_ENST00000605416.1_3'UTR|MCU_ENST00000357157.6_Silent_p.A223A	NM_001270680.1	NP_001257609.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	244					elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						CCTACATGGCCACACAGTTTG	0.483000													76	280					0	0	0.048971	0	0
CSMD2	114784	broad.mit.edu	37	1	34554594	34554594	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:34554594C>G	ENST00000373381.4	-	2	564	c.388G>C	c.(388-390)Gag>Cag	p.E130Q		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	90	CUB 1.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CGCAGATTCTCTGGCTGGGGT	0.537000													7	89					0	0	0.038147	0	0
OR5T1	390155	broad.mit.edu	37	11	56044049	56044049	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr11:56044049C>T	ENST00000313033.2	+	1	1021	c.935C>T	c.(934-936)gCa>gTa	p.A312V		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					GTAAAGGAGGCAATCAAAAGA	0.338000													51	59					0	0	0.048971	0	0
TLE4	7091	broad.mit.edu	37	9	82333861	82333861	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr9:82333861G>C	ENST00000376520.4	+	16	2489	c.1661G>C	c.(1660-1662)aGt>aCt	p.S554T	TLE4_ENST00000376534.4_Missense_Mutation_p.S159T|TLE4_ENST00000376537.4_Missense_Mutation_p.S554T|TLE4_ENST00000376544.3_Missense_Mutation_p.S453T|TLE4_ENST00000376552.2_Missense_Mutation_p.S522T|TLE4_ENST00000265284.6_Missense_Mutation_p.S497T			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GGCAATAAGAGTCCTGTCTCC	0.537000													10	36					0	0	0.013537	0	0
CCL7	6354	broad.mit.edu	37	17	32598250	32598250	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr17:32598250C>G	ENST00000394627.1	+	2	282	c.215C>G	c.(214-216)cCa>cGa	p.P72R	CCL7_ENST00000378569.2_Silent_p.T54T|CCL7_ENST00000200307.4_Silent_p.T64T|CCL7_ENST00000394630.3_Intron			P80098	CCL7_HUMAN	chemokine (C-C motif) ligand 7	0					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		ACAGAAGGACCACCAGTAGCC	0.493000													29	32					0	0	0.034045	0	0
IGSF10	285313	broad.mit.edu	37	3	151164972	151164972	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr3:151164972C>A	ENST00000282466.3	-	4	2796	c.2797G>T	c.(2797-2799)Gtc>Ttc	p.V933F		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	933					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGCATTTTGACATTGACATCT	0.403000													96	335					3.45148e-53	4.88191e-53	0.048971	1	0
OR6T1	219874	broad.mit.edu	37	11	123813703	123813703	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr11:123813703G>C	ENST00000321252.2	-	1	877	c.843C>G	c.(841-843)atC>atG	p.I281M		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		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;0.0401)		AGAGGGGTGTGATGATGCAGC	0.517000													8	235					0	0	0.038147	0	0
PGBD2	267002	broad.mit.edu	37	1	249211642	249211642	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:249211642G>C	ENST00000355360.4	+	3	376	c.106G>C	c.(106-108)Ggg>Cgg	p.G36R	PGBD2_ENST00000329291.5_Missense_Mutation_p.G287R|PGBD2_ENST00000539153.1_Missense_Mutation_p.G284R	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	287								p.G287W(1)|p.G36W(1)		NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GCTGCACAGGGGGAAGCCTGT	0.547000													8	202					0	0	0.047766	0	0
EEPD1	80820	broad.mit.edu	37	7	36338681	36338681	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr7:36338681G>T	ENST00000242108.4	+	8	2294	c.1576G>T	c.(1576-1578)Ggg>Tgg	p.G526W	EEPD1_ENST00000534978.1_Missense_Mutation_p.G526W	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	526					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						GTCTTGGGGCGGGGTGGCTTC	0.587000													44	50					7.05121e-23	9.3957e-23	0.039052	1	0
ANXA11	311	broad.mit.edu	37	10	81926673	81926673	+	Silent	SNP	T	T	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr10:81926673T>A	ENST00000438331.1	-	8	1199	c.717A>T	c.(715-717)ctA>ctT	p.L239L	ANXA11_ENST00000535999.1_Silent_p.L239L|ANXA11_ENST00000360615.4_Silent_p.L239L|ANXA11_ENST00000537102.1_Silent_p.L206L|ANXA11_ENST00000422982.3_Silent_p.L239L|ANXA11_ENST00000265447.4_Silent_p.L239L|ANXA11_ENST00000372231.3_Silent_p.L239L	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	239					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			TGAAGGAAAGTAGGATCTGCT	0.647000													5	5					0	0	0.014758	0	0
PEG3	5178	broad.mit.edu	37	19	57325232	57325232	+	Silent	SNP	A	A	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr19:57325232A>C	ENST00000326441.9	-	10	4941	c.4578T>G	c.(4576-4578)acT>acG	p.T1526T	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Silent_p.T1402T|PEG3_ENST00000593695.1_Silent_p.T1400T|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.T1526T|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1526					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)		TGCTGGCATGAGTTTTCAGGT	0.483000													58	115					0	0	0.048971	0	0
PLG	5340	broad.mit.edu	37	6	161160114	161160114	+	Nonsense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr6:161160114C>G	ENST00000308192.9	+	16	1955	c.1892C>G	c.(1891-1893)tCa>tGa	p.S631*		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	631	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CCAAGGCCTTCATCCTACAAG	0.498000													30	97					0	0	0.050027	0	0
SMARCA5	8467	broad.mit.edu	37	4	144438520	144438520	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr4:144438520G>C	ENST00000283131.3	+	2	652	c.190G>C	c.(190-192)Gat>Cat	p.D64H		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	64					CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					AATATTTGATGATGCGTCACC	0.328000													4	17					0	0	0.009096	0	0
MMD2	221938	broad.mit.edu	37	7	4949550	4949550	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr7:4949550C>G	ENST00000404774.3	-	6	765	c.571G>C	c.(571-573)Gta>Cta	p.V191L	MMD2_ENST00000401401.3_Missense_Mutation_p.V167L|MMD2_ENST00000406755.1_Missense_Mutation_p.V167L	NM_001100600.1	NP_001094070.1	Q8IY49	PAQRA_HUMAN	monocyte to macrophage differentiation-associated 2	191						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		AAGCCCATTACGACGTAGCAG	0.577000													21	32					0	0	0.055883	0	0
KIF19	124602	broad.mit.edu	37	17	72348457	72348457	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr17:72348457A>T	ENST00000389916.4	+	14	2096	c.1958A>T	c.(1957-1959)cAa>cTa	p.Q653L		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	653					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						ATCATGGACCAAGTGGCCTCC	0.662000													10	14					0	0	0.008291	0	0
PCGF3	10336	broad.mit.edu	37	4	758808	758808	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr4:758808G>C	ENST00000362003.5	+	10	1032	c.637G>C	c.(637-639)Gac>Cac	p.D213H	PCGF3_ENST00000505655.2_Missense_Mutation_p.D213H|RP11-440L14.1_ENST00000503571.1_RNA|PCGF3_ENST00000521023.2_Missense_Mutation_p.D179H|PCGF3_ENST00000470161.2_Missense_Mutation_p.D213H|AC139887.4_ENST00000454037.1_RNA	NM_006315.4	NP_006306.2	Q3KNV8	PCGF3_HUMAN	polycomb group ring finger 3	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(1)	7						CCTGGGCAAGGACCACACACT	0.502000													3	29					0	0	0.009096	0	0
ATP2B4	493	broad.mit.edu	37	1	203652500	203652500	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:203652500G>A	ENST00000357681.5	+	2	1290	c.167G>A	c.(166-168)aGt>aAt	p.S56N	ATP2B4_ENST00000341360.2_Missense_Mutation_p.S56N|ATP2B4_ENST00000367219.3_Missense_Mutation_p.S56N|ATP2B4_ENST00000367218.3_Missense_Mutation_p.S56N|ATP2B4_ENST00000391954.2_Missense_Mutation_p.S56N	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	56					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AATCTCTGCAGTAGACTGAAA	0.488000													56	93					0	0	0.048971	0	0
BSN	8927	broad.mit.edu	37	3	49693067	49693067	+	Silent	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr3:49693067C>T	ENST00000296452.4	+	5	6192	c.6078C>T	c.(6076-6078)ggC>ggT	p.G2026G		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2026					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		ACAGCCTGGGCTTTGCGGATG	0.607000													9	183					0	0	0.010729	0	0
MBP	4155	broad.mit.edu	37	18	74696830	74696830	+	Silent	SNP	T	T	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr18:74696830T>A	ENST00000355994.2	-	8	1034	c.771A>T	c.(769-771)ccA>ccT	p.P257P	MBP_ENST00000397866.4_Silent_p.P124P|MBP_ENST00000382582.3_Silent_p.P150P|MBP_ENST00000397875.3_Silent_p.P134P|MBP_ENST00000527041.1_Intron|MBP_ENST00000526111.1_Silent_p.P102P|MBP_ENST00000578193.1_Silent_p.P124P|MBP_ENST00000397865.5_Silent_p.P113P|MBP_ENST00000397869.3_Silent_p.P189P|MBP_ENST00000354542.4_Intron|MBP_ENST00000580402.1_Silent_p.P257P|MBP_ENST00000579129.1_Intron|MBP_ENST00000359645.3_Silent_p.P139P|MBP_ENST00000528160.1_Intron	NM_001025101.1	NP_001020272.1	P02686	MBP_HUMAN	myelin basic protein	257					central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)		AGCCAAATCCTGGTCTCTGGC	0.597000													21	51					0	0	0.014323	0	0
NT5C1A	84618	broad.mit.edu	37	1	40124879	40124879	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:40124879C>A	ENST00000235628.1	-	6	1020	c.1021G>T	c.(1021-1023)Ggc>Tgc	p.G341C		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	341					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GCCACAGTGCCCATCTCCTGA	0.607000													35	156					8.4185e-14	1.0454e-13	0.050027	1	0
OTUD7A	161725	broad.mit.edu	37	15	31862369	31862369	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr15:31862369G>T	ENST00000382902.1	-	2	275	c.183C>A	c.(181-183)agC>agA	p.S61R	OTUD7A_ENST00000307050.4_Missense_Mutation_p.S61R			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	61						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GCTCATAGTCGCTCAGAGCGG	0.552000													42	27					2.68985e-26	3.62993e-26	0.048971	1	0
PPAPDC3	84814	broad.mit.edu	37	9	134165461	134165461	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr9:134165461A>T	ENST00000372264.3	+	1	381	c.77A>T	c.(76-78)aAc>aTc	p.N26I	PPAPDC3_ENST00000372261.1_Missense_Mutation_p.N26I	NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3	26						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		CTGTCCCTGAACCAGCCCCCC	0.706000													15	4					0	0	0.038395	0	0
PLCE1	51196	broad.mit.edu	37	10	95791470	95791470	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr10:95791470G>C	ENST00000260766.3	+	2	1301	c.667G>C	c.(667-669)Gag>Cag	p.E223Q	PLCE1_ENST00000371380.2_Missense_Mutation_p.E223Q	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	223					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ACCTGGGGGTGAGGAGAAGCA	0.378000													12	42					0	0	0.010729	0	0
ZNF174	7727	broad.mit.edu	37	16	3454445	3454445	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr16:3454445G>T	ENST00000268655.4	+	2	1007	c.422G>T	c.(421-423)gGg>gTg	p.G141V	ZNF174_ENST00000344823.5_Missense_Mutation_p.G141V|ZNF174_ENST00000571936.1_Missense_Mutation_p.G141V|ZNF174_ENST00000575752.1_Missense_Mutation_p.G141V|LA16c-306E5.2_ENST00000575785.1_RNA|ZNF174_ENST00000572544.1_Missense_Mutation_p.G141V	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	141					negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.G141E(1)		endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						TGTATGCAGGGGCAAAAGGTG	0.498000													59	46					1.45723e-30	2.00227e-30	0.048971	1	0
LILRP2	79166	broad.mit.edu	37	19	55220440	55220440	+	RNA	SNP	A	A	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr19:55220440A>G	ENST00000413439.1	+	0	578																											ATTACCTGGGAGAGCCCCATG	0.617000													3	20					0	0	0.004672	0	0
ABCC8	6833	broad.mit.edu	37	11	17483148	17483148	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr11:17483148C>A	ENST00000302539.4	-	5	929	c.804G>T	c.(802-804)gaG>gaT	p.E268D	ABCC8_ENST00000389817.3_Missense_Mutation_p.E268D	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	268					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CGTCAAAGGCCTCGCAGAGCC	0.587000													5	70					0.000602214	0.000627109	0.014758	1	0
NBAS	51594	broad.mit.edu	37	2	15607504	15607504	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr2:15607504G>C	ENST00000281513.5	-	19	2071	c.2046C>G	c.(2044-2046)tgC>tgG	p.C682W	NBAS_ENST00000441750.1_Missense_Mutation_p.C682W	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	682										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GTCTACAACGGCAAAGTTCCT	0.318000													3	53					0	0	0.004672	0	0
TRPS1	7227	broad.mit.edu	37	8	116616446	116616446	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr8:116616446G>T	ENST00000395715.3	-	4	2327	c.1750C>A	c.(1750-1752)Ctt>Att	p.L584I	TRPS1_ENST00000519674.1_Missense_Mutation_p.L571I|TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000220888.5_Missense_Mutation_p.L571I|TRPS1_ENST00000520276.1_Missense_Mutation_p.L575I	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	571					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GGGCTGCAAAGTCCTCTGGGA	0.443000									Langer-Giedion syndrome				13	46					7.03913e-09	8.07744e-09	0.013537	1	0
NSUN4	387338	broad.mit.edu	37	1	46810744	46810744	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:46810744C>G	ENST00000474844.1	+	2	1015	c.365C>G	c.(364-366)tCc>tGc	p.S122C	NSUN4_ENST00000537428.1_Missense_Mutation_p.S73C|NSUN4_ENST00000536062.1_Missense_Mutation_p.S73C|NSUN4_ENST00000498008.1_3'UTR	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	122							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					TCCCCTGCCTCCTGGGCCTGC	0.577000													37	278					0	0	0.021022	0	0
KRT6A	3853	broad.mit.edu	37	12	52881659	52881659	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr12:52881659T>A	ENST00000330722.6	-	9	1608	c.1540A>T	c.(1540-1542)Agc>Tgc	p.S514C		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	514	Tail.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		TAGGAGTAGCTGCTTCCTCCA	0.622000													29	84					0	0	0.027356	0	0
FBXO33	254170	broad.mit.edu	37	14	39868928	39868928	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr14:39868928A>G	ENST00000298097.7	-	4	1797	c.1460T>C	c.(1459-1461)gTg>gCg	p.V487A	FBXO33_ENST00000554190.1_3'UTR	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	F-box protein 33	487										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		GACTTCAAGCACTTTCAGATC	0.463000													15	31					0	0	0.028581	0	0
SLC24A3	57419	broad.mit.edu	37	20	19193609	19193609	+	Silent	SNP	G	G	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr20:19193609G>T	ENST00000328041.6	+	1	320	c.123G>T	c.(121-123)tcG>tcT	p.S41S	RP11-97N19.2_ENST00000446849.1_RNA	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	41						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGTCGCTGTCGAGCCTGCGAG	0.766000													12	7					2.23348e-06	2.44114e-06	0.028581	1	0
PCLO	27445	broad.mit.edu	37	7	82453617	82453617	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr7:82453617T>C	ENST00000423517.2	-	19	14868	c.14531A>G	c.(14530-14532)cAg>cGg	p.Q4844R	PCLO_ENST00000333891.8_Missense_Mutation_p.Q4844R|PCLO_ENST00000426442.2_5'UTR	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4706					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGGGGACTGCTGGCTGCTCTG	0.428000													18	22					0	0	0.033300	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763963	77763963	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr8:77763963C>A	ENST00000521891.2	+	10	5254	c.4806C>A	c.(4804-4806)taC>taA	p.Y1602*	ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.Y1557*|ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.Y1557*|ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.Y1576*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1557						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATGTTGCATACAGCCAAAGCT	0.502000										HNSCC(33;0.089)			19	25					9.7654e-05	0.000103112	0.043863	1	0
CCL11	6356	broad.mit.edu	37	17	32612886	32612886	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr17:32612886A>T	ENST00000305869.3	+	1	200	c.59A>T	c.(58-60)cAg>cTg	p.Q20L		NM_002986.2	NP_002977.1	P51671	CCL11_HUMAN	chemokine (C-C motif) ligand 11	20					cell adhesion|cellular calcium ion homeostasis|immune response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|protein phosphorylation|response to radiation|response to virus|signal transduction	extracellular space	chemokine activity			breast(1)|lung(1)|prostate(1)	3	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		TTCAGCCCCCAGGGGCTCGCT	0.567000													7	161					0	0	0.038147	0	0
GART	2618	broad.mit.edu	37	21	34892683	34892683	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr21:34892683A>C	ENST00000381831.3	-	14	1953	c.1690T>G	c.(1690-1692)Tgt>Ggt	p.C564G	GART_ENST00000543717.1_Missense_Mutation_p.C116G|GART_ENST00000381815.4_Missense_Mutation_p.C564G|GART_ENST00000381839.3_Missense_Mutation_p.C564G	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	564	AIRS.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	AGGAGAGCACATCCAGCTTTT	0.398000													13	69					0	0	0.020292	0	0
BRCA2	675	broad.mit.edu	37	13	32915220	32915220	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr13:32915220C>G	ENST00000544455.1	+	11	6955	c.6728C>G	c.(6727-6729)tCt>tGt	p.S2243C	BRCA2_ENST00000380152.3_Missense_Mutation_p.S2243C	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2243					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	p.S2243Y(2)|p.S2243C(1)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CTGACAGATTCTAAACTGCCA	0.363000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			10	201					0	0	0.010729	0	0
PSEN1	5663	broad.mit.edu	37	14	73637658	73637658	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr14:73637658C>T	ENST00000324501.5	+	4	513	c.241C>T	c.(241-243)Cat>Tat	p.H81Y	PSEN1_ENST00000557511.1_Missense_Mutation_p.H81Y|PSEN1_ENST00000344094.3_Missense_Mutation_p.H81Y|PSEN1_ENST00000394157.3_Missense_Mutation_p.H81Y|PSEN1_ENST00000357710.4_Missense_Mutation_p.H77Y|PSEN1_ENST00000406768.1_5'UTR|PSEN1_ENST00000261970.3_Missense_Mutation_p.H81Y|PSEN1_ENST00000394164.1_Missense_Mutation_p.H77Y	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	81					amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		TGGCGCCAAGCATGTGATCAT	0.512000													4	55					0	0	0.014758	0	0
EML3	256364	broad.mit.edu	37	11	62371621	62371621	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr11:62371621C>T	ENST00000394773.2	-	17	2342	c.2035G>A	c.(2035-2037)Ggc>Agc	p.G679S	EML3_ENST00000494176.2_Missense_Mutation_p.G651S|EML3_ENST00000531557.1_Missense_Mutation_p.G462S|EML3_ENST00000529309.1_Missense_Mutation_p.G679S|EML3_ENST00000278845.4_Missense_Mutation_p.G680S	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	679						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TGCTCATTGCCATCAATGACA	0.562000													4	67					0	0	0.009096	0	0
GALNT11	63917	broad.mit.edu	37	7	151818734	151818734	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr7:151818734C>G	ENST00000434507.1	+	14	2236	c.1799C>G	c.(1798-1800)tCt>tGt	p.S600C	GALNT11_ENST00000452146.2_Missense_Mutation_p.S519C|GALNT11_ENST00000320311.2_Missense_Mutation_p.S600C|RP5-981O7.2_ENST00000424630.1_RNA|GALNT11_ENST00000430044.2_Missense_Mutation_p.S600C			Q8NCW6	GLT11_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)	600	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		GATGGCTCCTCTTCACAGCAG	0.562000													8	115					0	0	0.038147	0	0
SGPP1	81537	broad.mit.edu	37	14	64193979	64193979	+	Splice_Site	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr14:64193979C>A	ENST00000247225.6	-	1	778	c.684_splice	c.e1+1	p.Q228_splice		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	228						endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		GGAACCCTACCTGCCAGCGGC	0.532000													5	60					0.000602214	0.000627109	0.014758	1	0
A2ML1	144568	broad.mit.edu	37	12	8975819	8975819	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr12:8975819C>T	ENST00000299698.7	+	2	284	c.104C>T	c.(103-105)tCc>tTc	p.S35F	A2ML1-AS1_ENST00000537288.1_RNA	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	0						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						AATTTCCCCTCCGTTCAGAAG	0.448000													36	55					0	0	0.015359	0	0
KRTAP5-10	387273	broad.mit.edu	37	11	71276797	71276797	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr11:71276797G>C	ENST00000398531.1	+	1	189	c.164G>C	c.(163-165)tGt>tCt	p.C55S	KRTAP5-10_ENST00000376536.4_Missense_Mutation_p.C55S	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	55	7 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GTGTGCTGCTGTGTGCCAGCC	0.682000													36	254					0	0	0.048971	0	0
OR8B12	219858	broad.mit.edu	37	11	124413490	124413490	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr11:124413490C>A	ENST00000306842.2	-	1	85	c.61G>T	c.(61-63)Gga>Tga	p.G21*		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		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;0.0213)		ATCCGCAGTCCCGGCTGGTGG	0.537000													31	61					6.53348e-20	8.53385e-20	0.017118	1	0
TBX5	6910	broad.mit.edu	37	12	114793522	114793522	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr12:114793522G>C	ENST00000310346.4	-	9	2038	c.1372C>G	c.(1372-1374)Cag>Gag	p.Q458E	TBX5_ENST00000349716.5_Missense_Mutation_p.Q408E|TBX5_ENST00000405440.2_Missense_Mutation_p.Q458E	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	458				MDRLPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQ TS -> WTGYPTSTSPLTSPRGPWSLGWLAWQPWLPTAGRG NVPSTRPP (in Ref. 1; CAA70592).	cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		ACGGAGGTCTGGTGCTGGAAC	0.657000													4	43					0	0	0.009096	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38682942	38682942	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr19:38682942G>C	ENST00000222345.6	+	17	5097	c.4588G>C	c.(4588-4590)Gac>Cac	p.D1530H		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1530					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCAGGAGAGAGACACGGGAGT	0.617000													6	36					0	0	0.021553	0	0
OSCP1	127700	broad.mit.edu	37	1	36886216	36886216	+	Splice_Site	DEL	C	C	-			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:36886216delC	ENST00000356637.5	-	9	913	c.849_splice	c.e9-1	p.E284_splice	OSCP1_ENST00000433045.2_Splice_Site_p.E229_splice|OSCP1_ENST00000495222.1_Intron|OSCP1_ENST00000235532.5_Splice_Site_p.E274_splice|OSCP1_ENST00000315643.9_Splice_Site_p.E284_splice			Q8WVF1	OSCP1_HUMAN	organic solute carrier partner 1	284					transport	basal plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						GCAATGCTTTCCTGCAGAAAC	0.453											OREG0013368	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	111	493	---	---	---	---					
SLC6A9	6536	broad.mit.edu	37	1	44489938	44489938	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:44489938delT	ENST00000372310.3	-	2	177	c.12delA	c.(10-12)aafs	p.K4fs	SLC6A9_ENST00000475075.2_5'UTR|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000537678.1_5'UTR|SLC6A9_ENST00000372306.3_Frame_Shift_Del_p.K4fs	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	335						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CTTTGGCACCTTTTCCTACCA	0.627													10	1131	---	---	---	---					
IPP	3652	broad.mit.edu	37	1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton|cytoplasm	actin binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347													7	236	---	---	---	---					
PRKAA2	5563	broad.mit.edu	37	1	57170140	57170140	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:57170140delG	ENST00000371244.4	+	7	1351	c.1285delG	c.(1285-1287)aafs	p.E429fs		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	429					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						GCTGGATTTTGAATGGAAGGT	0.388													154	79	---	---	---	---					
ARHGAP30	257106	broad.mit.edu	37	1	161023062	161023062	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr1:161023062delC	ENST00000368013.3	-	6	970	c.650delG	c.(649-651)gtfs	p.G217fs	ARHGAP30_ENST00000368015.1_Frame_Shift_Del_p.G40fs|ARHGAP30_ENST00000368016.3_Frame_Shift_Del_p.G217fs	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	217					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GAGGGCAGCACCCCCAAAGAG	0.557													30	66	---	---	---	---					
CPB1	1360	broad.mit.edu	37	3	148563413	148563413	+	Splice_Site	DEL	G	G	-			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr3:148563413delG	ENST00000491148.1	+	10	1315	c.981_splice	c.e10+1	p.L327_splice	CPB1_ENST00000282957.4_Splice_Site_p.L327_splice			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	327					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			ATGCTGAGTTGGTAAGTAGCA	0.353													57	62	---	---	---	---					
ZNF716	441234	broad.mit.edu	37	7	57528541	57528542	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr7:57528541_57528542insA	ENST00000420713.1	+	4	486_487	c.374_375insA	c.(373-375)gaafs	p.E125fs		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						GATTTACAAGTAAAAAAATGCT	0.376													22	33	---	---	---	---					
ZNF733P	643955	broad.mit.edu	37	7	62752583	62752583	+	RNA	DEL	C	C	-			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr7:62752583delC	ENST00000331425.6	-	0	852					NR_003952.1																						TGTAGGGTCTCCCTCCAGTAT	0.468													7	41	---	---	---	---					
AC006988.1	0	broad.mit.edu	37	7	88269891	88269891	+	RNA	DEL	T	T	-			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr7:88269891delT	ENST00000390184.1	+	0	57																											GAAGGAGCACTTTTTTTTTTT	0.313													2	4	---	---	---	---					
CUBN	8029	broad.mit.edu	37	10	16960655	16960655	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr10:16960655delG	ENST00000377833.4	-	45	7031	c.6966delC	c.(6964-6966)ccfs	p.P2322fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2322	CUB 16.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.P2322P(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCACATGTGTGGGGCTGTTGT	0.383													17	31	---	---	---	---					
HSPA12A	259217	broad.mit.edu	37	10	118434788	118434788	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr10:118434788delC	ENST00000369209.3	-	12	1636	c.1532delG	c.(1531-1533)gcfs	p.G511fs		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	511							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		GATGGTGAGGCCCACGTCCTG	0.677													16	14	---	---	---	---					
VWF	7450	broad.mit.edu	37	12	6140700	6140700	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr12:6140700delC	ENST00000261405.5	-	21	2984	c.2730delG	c.(2728-2730)ggfs	p.G910fs		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	910	VWFD 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ATCCCTTATTCCCCACTAGGA	0.557													30	114	---	---	---	---					
SCARB1	949	broad.mit.edu	37	12	125279800	125279809	+	Frame_Shift_Del	DEL	GGGGATTCCC	GGGGATTCCC	-	rs1136654		TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr12:125279800_125279809delGGGGATTCCC	ENST00000339570.5	-	9	1330_1339	c.1134_1143delGGGAATCCCC	c.(1132-1143)acfs	p.TGIP378fs	SCARB1_ENST00000546215.1_Frame_Shift_Del_p.TGIP378fs|SCARB1_ENST00000541205.1_Frame_Shift_Del_p.TGIP337fs|SCARB1_ENST00000540495.1_Frame_Shift_Del_p.TGIP341fs|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000415380.2_Frame_Shift_Del_p.TGIP378fs|SCARB1_ENST00000376788.1_Frame_Shift_Del_p.TGIP278fs|SCARB1_ENST00000261693.6_Frame_Shift_Del_p.TGIP378fs|SCARB1_ENST00000544327.1_Frame_Shift_Del_p.TGIP324fs	NM_001082959.1	NP_001076428.1	Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	378					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	AGCAGTTCATGGGGATTCCCGTGACCTGCG	0.595													34	102	---	---	---	---					
TRAV40	28641	broad.mit.edu	37	14	22783028	22783030	+	RNA	DEL	ACA	ACA	-	rs150962227		TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr14:22783028_22783030delACA	ENST00000390467.3	+	0	43																											TCCAAAAGATACAACAACTCTGG	0.360													11	8	---	---	---	---					
SAMD15	161394	broad.mit.edu	37	14	77846730	77846730	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr14:77846730delG	ENST00000216471.4	+	2	1980	c.1694delG	c.(1693-1695)ttfs	p.C565fs	SAMD15_ENST00000533095.2_5'UTR	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	565	SAM.									breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGACAGGAGTGTTTTATCACA	0.433													26	57	---	---	---	---					
CST9L	128821	broad.mit.edu	37	20	23545644	23545644	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr20:23545644delT	ENST00000376979.3	-	3	683	c.385delA	c.(385-387)ggfs	p.R129fs		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	129						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					ATCCAGGGCCTGGTGCTGATG	0.547													54	100	---	---	---	---					
SAMHD1	25939	broad.mit.edu	37	20	35545172	35545172	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr20:35545172delG	ENST00000262878.4	-	9	1214	c.1015delC	c.(1015-1017)gtfs	p.R339fs	SAMHD1_ENST00000373694.5_Frame_Shift_Del_p.R124fs	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	339					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity	p.R339S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				TCACAGACACGGGCAAACTTA	0.388													101	255	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11047530	11047531	+	RNA	INS	-	-	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	13b99a70-6519-494b-b9c6-e38c7ba788d1	g.chr21:11047530_11047531insA	ENST00000470054.1	-	0	723_724									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCGTTGAAGACAAAAAGTATGA	0.347													11	492	---	---	---	---					
TFAP2E	339488	broad.mit.edu	37	1	36039564	36039565	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:36039564_36039565insC	ENST00000373235.3	+	2	272_273	c.64_65insC	c.(64-66)ccgfs	p.P22fs	RP4-728D4.2_ENST00000444348.1_RNA	NM_178548.3	NP_848643.2	Q6VUC0	AP2E_HUMAN	transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)	22	Gln/Pro-rich (transactivation domain).					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				TGCCGGCGGGGCCCGCCTGTCG	0.733													5	7	---	---	---	---					
OSCP1	127700	broad.mit.edu	37	1	36886216	36886216	+	Splice_Site	DEL	C	C	-			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:36886216delC	ENST00000356637.5	-	9	913	c.849_splice	c.e9-1	p.E284_splice	OSCP1_ENST00000315643.9_Splice_Site_p.E284_splice|OSCP1_ENST00000495222.1_Intron|OSCP1_ENST00000433045.2_Splice_Site_p.E229_splice|OSCP1_ENST00000235532.5_Splice_Site_p.E274_splice			Q8WVF1	OSCP1_HUMAN	organic solute carrier partner 1	284					transport	basal plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						GCAATGCTTTCCTGCAGAAAC	0.453											OREG0013368	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	111	493	---	---	---	---					
PRKAA2	5563	broad.mit.edu	37	1	57170140	57170140	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:57170140delG	ENST00000371244.4	+	7	1351	c.1285delG	c.(1285-1287)aafs	p.E429fs		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	429					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						GCTGGATTTTGAATGGAAGGT	0.388													154	79	---	---	---	---					
ARHGAP30	257106	broad.mit.edu	37	1	161023062	161023062	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr1:161023062delC	ENST00000368013.3	-	6	970	c.650delG	c.(649-651)gtfs	p.G217fs	ARHGAP30_ENST00000368015.1_Frame_Shift_Del_p.G40fs|ARHGAP30_ENST00000368016.3_Frame_Shift_Del_p.G217fs	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	217					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GAGGGCAGCACCCCCAAAGAG	0.557													30	66	---	---	---	---					
CPB1	1360	broad.mit.edu	37	3	148563413	148563413	+	Splice_Site	DEL	G	G	-			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr3:148563413delG	ENST00000491148.1	+	10	1315	c.981_splice	c.e10+1	p.L327_splice	CPB1_ENST00000282957.4_Splice_Site_p.L327_splice			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	327					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			ATGCTGAGTTGGTAAGTAGCA	0.353													57	62	---	---	---	---					
ZNF716	441234	broad.mit.edu	37	7	57528541	57528542	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr7:57528541_57528542insA	ENST00000420713.1	+	4	486_487	c.374_375insA	c.(373-375)gaafs	p.E125fs		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						GATTTACAAGTAAAAAAATGCT	0.376													22	33	---	---	---	---					
ZNF733P	643955	broad.mit.edu	37	7	62752583	62752583	+	RNA	DEL	C	C	-			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr7:62752583delC	ENST00000331425.6	-	0	852					NR_003952.1																						TGTAGGGTCTCCCTCCAGTAT	0.468													7	41	---	---	---	---					
AC006988.1	0	broad.mit.edu	37	7	88269891	88269891	+	RNA	DEL	T	T	-			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr7:88269891delT	ENST00000390184.1	+	0	57																											GAAGGAGCACTTTTTTTTTTT	0.313													2	4	---	---	---	---					
CUBN	8029	broad.mit.edu	37	10	16960655	16960655	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr10:16960655delG	ENST00000377833.4	-	45	7031	c.6966delC	c.(6964-6966)ccfs	p.P2322fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2322	CUB 16.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.P2322P(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCACATGTGTGGGGCTGTTGT	0.383													17	31	---	---	---	---					
HSPA12A	259217	broad.mit.edu	37	10	118434788	118434788	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr10:118434788delC	ENST00000369209.3	-	12	1636	c.1532delG	c.(1531-1533)gcfs	p.G511fs		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	511							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		GATGGTGAGGCCCACGTCCTG	0.677													16	14	---	---	---	---					
VWF	7450	broad.mit.edu	37	12	6140700	6140700	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr12:6140700delC	ENST00000261405.5	-	21	2984	c.2730delG	c.(2728-2730)ggfs	p.G910fs		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	910	VWFD 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ATCCCTTATTCCCCACTAGGA	0.557													30	114	---	---	---	---					
SCARB1	949	broad.mit.edu	37	12	125279800	125279809	+	Frame_Shift_Del	DEL	GGGGATTCCC	GGGGATTCCC	-	rs1136654		TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr12:125279800_125279809delGGGGATTCCC	ENST00000339570.5	-	9	1330_1339	c.1134_1143delGGGAATCCCC	c.(1132-1143)acfs	p.TGIP378fs	SCARB1_ENST00000540495.1_Frame_Shift_Del_p.TGIP341fs|SCARB1_ENST00000541205.1_Frame_Shift_Del_p.TGIP337fs|SCARB1_ENST00000546215.1_Frame_Shift_Del_p.TGIP378fs|SCARB1_ENST00000415380.2_Frame_Shift_Del_p.TGIP378fs|SCARB1_ENST00000376788.1_Frame_Shift_Del_p.TGIP278fs|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000544327.1_Frame_Shift_Del_p.TGIP324fs|SCARB1_ENST00000261693.6_Frame_Shift_Del_p.TGIP378fs	NM_001082959.1	NP_001076428.1	Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	378					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	AGCAGTTCATGGGGATTCCCGTGACCTGCG	0.595													34	102	---	---	---	---					
TRAV9-2	28677	broad.mit.edu	37	14	22409540	22409541	+	RNA	INS	-	-	C			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr14:22409540_22409541insC	ENST00000390441.2	+	0	102																											tctctctctctTTTTTTTTTTC	0.426													8	11	---	---	---	---					
SAMD15	161394	broad.mit.edu	37	14	77846730	77846730	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr14:77846730delG	ENST00000216471.4	+	2	1980	c.1694delG	c.(1693-1695)ttfs	p.C565fs	SAMD15_ENST00000533095.2_5'UTR	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	565	SAM.									breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGACAGGAGTGTTTTATCACA	0.433													26	57	---	---	---	---					
CST9L	128821	broad.mit.edu	37	20	23545644	23545644	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr20:23545644delT	ENST00000376979.3	-	3	683	c.385delA	c.(385-387)ggfs	p.R129fs		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	129						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					ATCCAGGGCCTGGTGCTGATG	0.547													54	100	---	---	---	---					
SAMHD1	25939	broad.mit.edu	37	20	35545172	35545172	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr20:35545172delG	ENST00000262878.4	-	9	1214	c.1015delC	c.(1015-1017)gtfs	p.R339fs	SAMHD1_ENST00000373694.5_Frame_Shift_Del_p.R124fs	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	339					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity	p.R339S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				TCACAGACACGGGCAAACTTA	0.388													101	255	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11047530	11047531	+	RNA	INS	-	-	A			TCGA-44-7660-01A-11D-2063-08	TCGA-44-7660-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8a83c15-2e20-417c-bf2e-424c65eaa321	2c2a648f-faff-442e-8072-c70c1f94cb46	g.chr21:11047530_11047531insA	ENST00000470054.1	-	0	723_724									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCGTTGAAGACAAAAAGTATGA	0.347													11	492	---	---	---	---					
