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
CERS4	79603	broad.mit.edu	37	19	8320582	8320582	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr19:8320582A>T	ENST00000558331.1	+	5	689	c.230A>T	c.(229-231)cAg>cTg	p.Q77L	CERS4_ENST00000595722.1_3'UTR|CERS4_ENST00000251363.5_Missense_Mutation_p.Q128L|CERS4_ENST00000559336.1_Missense_Mutation_p.Q128L|CERS4_ENST00000559450.1_Missense_Mutation_p.Q128L			Q9HA82	CERS4_HUMAN	ceramide synthase 4	128						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	p.Q128L(1)									GATCGACCCCAGCTGACCAAG	0.672000													4	8					0	0	0.009096	0	0
ST7L	54879	broad.mit.edu	37	1	113098589	113098589	+	Silent	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:113098589G>T	ENST00000358039.4	-	12	1601	c.1297C>A	c.(1297-1299)Cgg>Agg	p.R433R	ST7L_ENST00000538187.1_Silent_p.R377R|ST7L_ENST00000490067.1_Silent_p.R416R|ST7L_ENST00000463235.1_5'UTR|ST7L_ENST00000369666.1_Silent_p.R416R|ST7L_ENST00000369668.2_Silent_p.R433R|ST7L_ENST00000369669.1_Silent_p.R250R|ST7L_ENST00000360743.4_Silent_p.R433R|ST7L_ENST00000343210.7_Silent_p.R433R|ST7L_ENST00000544629.1_Silent_p.R368R|ST7L_ENST00000543570.1_Intron	NM_017744.4|NM_138727.3	NP_060214.2|NP_620055.1	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7 like	433					negative regulation of cell growth	integral to membrane	binding	p.R433R(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTATCACCCCGTTTCAGAATG	0.368000													12	106					3.07112e-06	3.56343e-06	0.010729	1	0
SLC39A12	221074	broad.mit.edu	37	10	18266952	18266952	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr10:18266952C>A	ENST00000377369.2	+	5	1146	c.873C>A	c.(871-873)ttC>ttA	p.F291L	SLC39A12_ENST00000377374.4_Missense_Mutation_p.F291L|SLC39A12_ENST00000377371.3_Missense_Mutation_p.F291L|SLC39A12_ENST00000539911.1_Missense_Mutation_p.F157L	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	291					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.F291L(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						ATTCTAATTTCTCTTCATCCA	0.373000													32	145					2.80507e-11	3.77319e-11	0.012213	1	0
ZNF253	56242	broad.mit.edu	37	19	20002661	20002661	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr19:20002661G>T	ENST00000589717.1	+	4	697	c.605G>T	c.(604-606)tGt>tTt	p.C202F	ZNF253_ENST00000355650.4_Missense_Mutation_p.C126F	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	202					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C202F(2)		endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCTTACAGATGTGAAGAATGT	0.358000													26	23					2.44723e-14	3.56815e-14	0.004656	1	0
RALGAPA2	57186	broad.mit.edu	37	20	20484116	20484116	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr20:20484116C>T	ENST00000202677.6	-	35	5229	c.5087G>A	c.(5086-5088)gGc>gAc	p.G1696D		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1696	Rap-GAP.				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	p.G1696D(2)		endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GCGCTGAAGGCCACCCATGAA	0.512000													14	30					0	0	0.003163	0	0
RBMX2	51634	broad.mit.edu	37	X	129545489	129545489	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chrX:129545489G>T	ENST00000305536.6	+	5	535	c.471G>T	c.(469-471)aaG>aaT	p.K157N	RBMX2_ENST00000469953.1_3'UTR	NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	157	Lys-rich.						nucleotide binding|RNA binding	p.K157N(1)		breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						CAACAAAAAAGCACAAAAAAG	0.428000													26	29					1.17739e-12	1.64187e-12	0.005443	1	0
EVPL	2125	broad.mit.edu	37	17	74023232	74023232	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr17:74023232C>A	ENST00000301607.3	-	1	301	c.48G>T	c.(46-48)aaG>aaT	p.K16N	EVPL_ENST00000586740.1_Missense_Mutation_p.K16N	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	16	4 X 4 AA tandem repeats of K-G-S-P.|Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	p.K16N(1)		breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						cgggggagcccttgggggacc	0.677000													6	6					0.00198382	0.00213858	0.001984	1	0
C4orf21	55345	broad.mit.edu	37	4	113541292	113541292	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr4:113541292C>A	ENST00000505019.1	-	5	342	c.217G>T	c.(217-219)Gtt>Ttt	p.V73F	C4orf21_ENST00000309071.5_Missense_Mutation_p.V73F|C4orf21_ENST00000445203.2_Missense_Mutation_p.V42F	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	73								p.V73F(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		GCAACTTTAACCTCTTCAACT	0.353000													28	67					1.04352e-10	1.37626e-10	0.003755	1	0
ADAMTSL4	54507	broad.mit.edu	37	1	150526056	150526056	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:150526056C>T	ENST00000271643.4	+	6	825	c.589C>T	c.(589-591)Cct>Tct	p.P197S	ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.P197S|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.P197S|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.P197S	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	197					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	p.P197S(1)		breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TATTCCGTCCCCTACTCCAAG	0.602000													59	72					0	0	0.014410	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43847848	43847848	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr12:43847848C>A	ENST00000389420.3	-	12	1621	c.1622G>T	c.(1621-1623)cGt>cTt	p.R541L	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R541L	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	541	Disintegrin.					proteinaceous extracellular matrix	zinc ion binding	p.R541L(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TAGCCCATGACGGCAATGCTA	0.368000													13	24					0.00244969	0.00263613	0.002450	1	0
PPEF2	5470	broad.mit.edu	37	4	76797493	76797493	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr4:76797493C>T	ENST00000286719.7	-	11	1623	c.1267G>A	c.(1267-1269)Gca>Aca	p.A423T		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	423	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	p.A423T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCAGAGTCTGCTTCTGAGGCT	0.652000													24	68					0	0	0.005443	0	0
CDK6	1021	broad.mit.edu	37	7	92300767	92300767	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr7:92300767C>A	ENST00000265734.4	-	5	1031	c.620G>T	c.(619-621)tGc>tTc	p.C207F	CDK6_ENST00000424848.2_Missense_Mutation_p.C207F	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	207	Protein kinase.				cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	p.C207F(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TGCAAATATGCAGCCAACACT	0.478000			T	MLLT10	ALL								13	105					6.94344e-10	9.00131e-10	0.006122	1	0
MPHOSPH8	54737	broad.mit.edu	37	13	20235960	20235960	+	Silent	SNP	C	C	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr13:20235960C>T	ENST00000361479.5	+	8	1982	c.1914C>T	c.(1912-1914)ctC>ctT	p.L638L	MPHOSPH8_ENST00000414242.2_Silent_p.L638L	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	638					cell cycle	cytoplasm|nucleus		p.L638L(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		CCACCGCCCTCATTCATGCTG	0.542000													25	123					0	0	0.003330	0	0
EXT2	2132	broad.mit.edu	37	11	44129611	44129611	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr11:44129611G>C	ENST00000395673.3	+	2	504	c.448G>C	c.(448-450)Gac>Cac	p.D150H	EXT2_ENST00000343631.3_Missense_Mutation_p.D117H|EXT2_ENST00000533608.1_Missense_Mutation_p.D117H|EXT2_ENST00000358681.4_Missense_Mutation_p.D117H|EXT2_ENST00000529186.1_3'UTR	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	117					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	p.D117H(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						GTACGTGGATGACTTTGGCGT	0.463000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				31	29					0	0	0.003271	0	0
DMD	1756	broad.mit.edu	37	X	32305815	32305815	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chrX:32305815T>A	ENST00000357033.4	-	43	6327	c.6121A>T	c.(6121-6123)Ata>Tta	p.I2041L	DMD_ENST00000378677.2_Missense_Mutation_p.I2037L	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2041					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.I2041L(1)|p.I2037L(1)|p.I2036L(1)|p.I700L(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTATCTTTTATATTCTGTAAT	0.313000													11	9					0	0	0.008291	0	0
INO80D	54891	broad.mit.edu	37	2	206921452	206921452	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr2:206921452G>T	ENST00000403263.1	-	4	838	c.434C>A	c.(433-435)aCc>aAc	p.T145N		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	145					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.T40N(1)|p.T145N(1)		NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						TTCCAATTCGGTTTCCAGGTA	0.527000													9	18					1.12685e-05	1.28061e-05	0.004482	1	0
NLRP10	338322	broad.mit.edu	37	11	7982367	7982367	+	Missense_Mutation	SNP	C	C	A	rs112117055	byFrequency	TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr11:7982367C>A	ENST00000328600.2	-	2	953	c.792G>T	c.(790-792)aaG>aaT	p.K264N		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	264	NACHT.						ATP binding	p.K264N(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCAAACCCCTCTTCTTCAACT	0.547000													67	102					5.00936e-31	9.03765e-31	0.014410	1	0
NRG3	10718	broad.mit.edu	37	10	84718748	84718748	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr10:84718748A>T	ENST00000372142.2	+	7	812	c.538A>T	c.(538-540)Aat>Tat	p.N180Y	NRG3_ENST00000404547.1_Missense_Mutation_p.N401Y|NRG3_ENST00000404576.2_Missense_Mutation_p.N205Y|NRG3_ENST00000372141.2_Missense_Mutation_p.N401Y|NRG3_ENST00000537893.1_Missense_Mutation_p.N51Y|NRG3_ENST00000545131.1_Missense_Mutation_p.N51Y|NRG3_ENST00000556918.1_Missense_Mutation_p.N231Y	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	401	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.N180Y(1)|p.N401Y(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AGTGCCACAAAATGGTAAAAG	0.403000													4	56					0	0	0.001984	0	0
PRR14	78994	broad.mit.edu	37	16	30666091	30666091	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr16:30666091C>T	ENST00000542965.2	+	7	1256	c.800C>T	c.(799-801)cCc>cTc	p.P267L	PRR14_ENST00000300835.4_Missense_Mutation_p.P267L			Q9BWN1	PRR14_HUMAN	proline rich 14	267	Pro-rich.							p.P267L(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			TTCCTCACGCCCAACAAAACC	0.637000													13	24					0	0	0.002450	0	0
ESRRG	2104	broad.mit.edu	37	1	216824369	216824369	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:216824369A>G	ENST00000391890.3	-	5	983	c.466T>C	c.(466-468)Tcc>Ccc	p.S156P	ESRRG_ENST00000366938.2_Missense_Mutation_p.S156P|ESRRG_ENST00000463665.1_Intron|ESRRG_ENST00000408911.3_Missense_Mutation_p.S179P|ESRRG_ENST00000366937.1_Missense_Mutation_p.S184P|ESRRG_ENST00000366940.2_Missense_Mutation_p.S156P|ESRRG_ENST00000361525.3_Missense_Mutation_p.S156P|ESRRG_ENST00000361395.2_Missense_Mutation_p.S156P|ESRRG_ENST00000359162.2_Missense_Mutation_p.S156P|ESRRG_ENST00000487276.1_Missense_Mutation_p.S156P|ESRRG_ENST00000360012.3_Missense_Mutation_p.S156P|ESRRG_ENST00000493603.1_Missense_Mutation_p.S156P|ESRRG_ENST00000493748.1_Missense_Mutation_p.S156P	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	179					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.S179P(1)		endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	GCCTGGCAGGATTTACGTCTG	0.433000													46	141					0	0	0.014410	0	0
MLF1	4291	broad.mit.edu	37	3	158317887	158317887	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr3:158317887C>T	ENST00000359117.5	+	5	654	c.418C>T	c.(418-420)Cat>Tat	p.H140Y	MLF1_ENST00000355893.5_Missense_Mutation_p.H165Y|MLF1_ENST00000482628.1_Missense_Mutation_p.H140Y|MLF1_ENST00000478894.2_Missense_Mutation_p.H155Y|MLF1_ENST00000471745.1_Missense_Mutation_p.H155Y|MLF1_ENST00000497004.1_3'UTR|MLF1_ENST00000469452.1_Missense_Mutation_p.H97Y|MLF1_ENST00000484955.1_Missense_Mutation_p.H140Y|MLF1_ENST00000392822.3_Missense_Mutation_p.H196Y	NM_001130156.2	NP_001123628.1	P58340	MLF1_HUMAN	myeloid leukemia factor 1	165					cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein domain specific binding	p.H196Y(1)|p.H165Y(1)		large_intestine(3)	3		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			TGACCGAGCTCATGTCATTAA	0.338000			T	NPM1	AML								97	62					0	0	0.014410	0	0
HIST1H1D	3007	broad.mit.edu	37	6	26234700	26234700	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr6:26234700C>A	ENST00000244534.5	-	1	516	c.462G>T	c.(460-462)aaG>aaT	p.K154N		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	154					nucleosome assembly	nucleosome|nucleus	DNA binding	p.K154N(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				TCTTAGGAGTCTTTTTGATGC	0.542000													93	118					4.3955e-51	8.40398e-51	0.014410	1	0
SLC15A3	51296	broad.mit.edu	37	11	60711284	60711284	+	Silent	SNP	C	C	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr11:60711284C>T	ENST00000227880.3	-	3	1106	c.873G>A	c.(871-873)ctG>ctA	p.L291L		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	291					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity	p.L291L(1)		central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						TCTCGTCGGCCAGCACGCGGG	0.602000													5	16					0	0	0.001168	0	0
ILVBL	10994	broad.mit.edu	37	19	15229989	15229989	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr19:15229989T>C	ENST00000263383.3	-	9	1178	c.1039A>G	c.(1039-1041)Att>Gtt	p.I347V	ILVBL_ENST00000534378.1_Missense_Mutation_p.I240V	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	347						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity	p.I347V(1)		NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						GCTAGGACAATGACATCCGCC	0.622000													26	70					0	0	0.005443	0	0
CLTC	1213	broad.mit.edu	37	17	57724917	57724917	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr17:57724917C>G	ENST00000269122.3	+	3	683	c.409C>G	c.(409-411)Cag>Gag	p.Q137E	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.Q137E	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	137	Globular terminal domain.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	p.Q137E(1)	CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					AGGAGAGTCTCAGCCAGTGAA	0.418000			T	"""ALK, TFE3"""	"""ALCL, renal """								66	151					0	0	0.014410	0	0
MLIP	90523	broad.mit.edu	37	6	53883743	53883743	+	Translation_Start_Site	SNP	A	A	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr6:53883743A>T	ENST00000514921.1	+	0	30				MLIP_ENST00000370877.2_De_novo_Start_InFrame|MLIP_ENST00000274897.5_De_novo_Start_InFrame			Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein							nuclear envelope|PML body	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						AATATCTAACATGTAAGCACG	0.398000													8	14					0	0	0.006214	0	0
LAMA5	3911	broad.mit.edu	37	20	60892742	60892742	+	Silent	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr20:60892742C>A	ENST00000252999.3	-	54	7398	c.7332G>T	c.(7330-7332)ctG>ctT	p.L2444L		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2444	Domain II and I.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	p.L2444L(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCAGGCTGTGCAGCAATCTGA	0.652000													4	9					2.0095e-06	2.34957e-06	0.001984	1	0
PHKB	5257	broad.mit.edu	37	16	47581459	47581459	+	Splice_Site	SNP	G	G	C			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr16:47581459G>C	ENST00000455779.1	+	8	874	c.689_splice	c.e8+1	p.S230_splice	PHKB_ENST00000567402.1_3'UTR|PHKB_ENST00000566044.1_Splice_Site_p.S230_splice|PHKB_ENST00000323584.5_Splice_Site_p.S237_splice|PHKB_ENST00000299167.8_Splice_Site_p.S237_splice			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	237					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity	p.S237T(2)|p.S230T(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				CTACATTCGAGGTAATTTGCT	0.343000													25	87					0	0	0.003954	0	0
PINX1	54984	broad.mit.edu	37	8	10623344	10623344	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr8:10623344C>A	ENST00000314787.3	-	7	673	c.554G>T	c.(553-555)cGg>cTg	p.R185L	CTD-2135J3.3_ENST00000519568.1_RNA|SOX7_ENST00000554914.1_Intron|PINX1_ENST00000519088.1_Silent_p.A159A|PINX1_ENST00000426190.2_Silent_p.A157A|SOX7_ENST00000553390.1_Intron	NM_017884.4	NP_060354.4			PIN2/TERF1 interacting, telomerase inhibitor 1									p.R185L(1)		kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17				Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)		TGCTGCCATCCGCTTGGCAAA	0.537000													10	225					0.00136819	0.00148018	0.013537	1	0
LPPR4	9890	broad.mit.edu	37	1	99772505	99772505	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:99772505C>A	ENST00000370185.3	+	7	2728	c.2231C>A	c.(2230-2232)cCc>cAc	p.P744H	LPPR4_ENST00000457765.1_Missense_Mutation_p.P686H|LPPR4_ENST00000370184.1_Missense_Mutation_p.P586H	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		744							phosphatidate phosphatase activity	p.P744H(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AGCAACAGCCCCGAAAACACT	0.478000													57	99					2.40265e-35	4.41333e-35	0.014410	1	0
COL24A1	255631	broad.mit.edu	37	1	86252065	86252065	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:86252065G>T	ENST00000370571.2	-	48	4397	c.4031C>A	c.(4030-4032)cCa>cAa	p.P1344Q	COL24A1_ENST00000436319.1_Missense_Mutation_p.P1344Q	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1344	Collagen-like 15.				cell adhesion	collagen	extracellular matrix structural constituent	p.P1344Q(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TGGGCTTCCTGGCAAGCCTGA	0.493000													83	144					1.48072e-28	2.64011e-28	0.014410	1	0
RIF1	55183	broad.mit.edu	37	2	152320326	152320326	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr2:152320326G>A	ENST00000243326.4	+	29	4775	c.4292G>A	c.(4291-4293)aGc>aAc	p.S1431N	RIF1_ENST00000428287.2_Missense_Mutation_p.S1431N|RIF1_ENST00000444746.2_Missense_Mutation_p.S1431N|RIF1_ENST00000453091.2_Missense_Mutation_p.S1431N|RIF1_ENST00000430328.2_Missense_Mutation_p.S1431N			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	1431					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	p.S1431N(1)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		ACCACTGAAAGCCAAGATAAG	0.388000													15	83					0	0	0.004007	0	0
DNAH8	1769	broad.mit.edu	37	6	38881720	38881720	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr6:38881720G>A	ENST00000359357.3	+	65	9558	c.9304G>A	c.(9304-9306)Gca>Aca	p.A3102T	DNAH8_ENST00000449981.2_Missense_Mutation_p.A3319T|DNAH8_ENST00000441566.1_Missense_Mutation_p.A3066T					dynein, axonemal, heavy chain 8									p.A3102T(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTCCATAAAAGCAGACGAAGT	0.363000													24	99					0	0	0.006320	0	0
CYB5R2	51700	broad.mit.edu	37	11	7690912	7690912	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr11:7690912C>T	ENST00000533558.1	-	4	758	c.202G>A	c.(202-204)Gct>Act	p.A68T	CYB5R2_ENST00000524790.1_Missense_Mutation_p.A68T|CYB5R2_ENST00000299497.9_Missense_Mutation_p.A68T|CYB5R2_ENST00000299498.6_Missense_Mutation_p.A68T			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2	68	FAD-binding FR-type.				sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity	p.A68T(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGGGTGTAAGCCCTGACCACC	0.428000													5	94					0	0	0.001984	0	0
SYT11	23208	broad.mit.edu	37	1	155838424	155838424	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:155838424A>T	ENST00000368324.4	+	2	956	c.703A>T	c.(703-705)Agc>Tgc	p.S235C	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	235	C2 1.					cell junction|synaptic vesicle membrane	protein binding|transporter activity	p.S235C(1)		breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			CATCCCCTACAGCCAGCTGCA	0.577000													22	52					0	0	0.012319	0	0
KPNA5	3841	broad.mit.edu	37	6	117053462	117053462	+	Silent	SNP	A	A	G			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr6:117053462A>G	ENST00000368564.1	+	14	1744	c.1596A>G	c.(1594-1596)gcA>gcG	p.A532A	KPNA5_ENST00000356348.1_Silent_p.A532A			O15131	IMA5_HUMAN	karyopherin alpha 5 (importin alpha 6)	529					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity	p.A532A(1)		breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		AGCAGGAAGCACCAATGGATG	0.383000													4	153					0	0	0.000602	0	0
SERPINB3	6317	broad.mit.edu	37	18	61328038	61328038	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr18:61328038T>C	ENST00000283752.5	-	3	361	c.218A>G	c.(217-219)tAt>tGt	p.Y73C	SERPINB3_ENST00000332821.8_Missense_Mutation_p.Y73C|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	73					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.Y73C(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						ACTCACATGATATGTTGCAGC	0.418000													25	45					0	0	0.006320	0	0
GRID2	2895	broad.mit.edu	37	4	94137928	94137928	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr4:94137928T>C	ENST00000282020.4	+	6	1087	c.829T>C	c.(829-831)Tca>Cca	p.S277P	GRID2_ENST00000510992.1_Missense_Mutation_p.S182P|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	277					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.S277P(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TGTAAGAAGGTCAATTGGAAG	0.393000													84	139					0	0	0.014410	0	0
NLRP8	126205	broad.mit.edu	37	19	56467428	56467428	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr19:56467428C>A	ENST00000291971.3	+	3	2075	c.2004C>A	c.(2002-2004)aaC>aaA	p.N668K	NLRP8_ENST00000590542.1_Missense_Mutation_p.N668K	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	668						cytoplasm	ATP binding	p.N668K(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		ACTTCATGAACGTGTGGAAGC	0.527000													25	103					6.12954e-19	9.8853e-19	0.004656	1	0
ACTN1	87	broad.mit.edu	37	14	69346732	69346732	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr14:69346732T>A	ENST00000193403.6	-	18	2610	c.2227A>T	c.(2227-2229)Atc>Ttc	p.I743F	ACTN1_ENST00000538545.2_Missense_Mutation_p.I743F|ACTN1_ENST00000438964.2_Missense_Mutation_p.I743F|ACTN1_ENST00000394419.4_Missense_Mutation_p.I743F|ACTN1_ENST00000376839.3_Missense_Mutation_p.I678F	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	743					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	p.I743F(1)|p.I743V(1)		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)		TCCTGGCTGATGCCCTTGGCA	0.602000													25	87					0	0	0.005443	0	0
TBC1D9	23158	broad.mit.edu	37	4	141555141	141555141	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr4:141555141C>A	ENST00000442267.2	-	16	2781	c.2707G>T	c.(2707-2709)Gac>Tac	p.D903Y		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	903	EF-hand.					intracellular	calcium ion binding|Rab GTPase activator activity	p.D903Y(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				ATCAAAGAGTCTCCATTTTCA	0.478000													11	30					9.31168e-06	1.06419e-05	0.001855	1	0
UBTD2	92181	broad.mit.edu	37	5	171639033	171639033	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr5:171639033C>G	ENST00000393792.2	-	3	911	c.506G>C	c.(505-507)cGc>cCc	p.R169P		NM_152277.2	NP_689490.2	Q8WUN7	UBTD2_HUMAN	ubiquitin domain containing 2	169	Ubiquitin-like.					cytoplasm		p.R169P(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTCTGTGCTGCGAACCACAAG	0.502000													72	61					0	0	0.014410	0	0
OR5B21	219968	broad.mit.edu	37	11	58275328	58275328	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr11:58275328C>A	ENST00000360374.2	-	1	250	c.251G>T	c.(250-252)cGg>cTg	p.R84L		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R84L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GTCCCCTGACCGCAATGCAGC	0.532000													8	38					2.27111e-07	2.73975e-07	0.013537	1	0
PEG3	5178	broad.mit.edu	37	19	57326484	57326484	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr19:57326484C>A	ENST00000326441.9	-	10	3689	c.3326G>T	c.(3325-3327)tGt>tTt	p.C1109F	ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.C1109F|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.C985F|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.C983F|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1109					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C1109F(2)		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)		ACAGTCCTCACATTCATAGAT	0.507000													21	123					1.10513e-12	1.55537e-12	0.014323	1	0
IL9R	3581	broad.mit.edu	37	X	155235036	155235036	+	Missense_Mutation	SNP	C	C	T	rs140130676	byFrequency	TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chrX:155235036C>T	ENST00000424344.3	+	7	977	c.610C>T	c.(610-612)Cgt>Tgt	p.R204C	IL9R_ENST00000540897.1_Missense_Mutation_p.R250C|IL9R_ENST00000244174.5_Missense_Mutation_p.R225C|IL9R_ENST00000369423.2_Missense_Mutation_p.R260C			Q01113	IL9R_HUMAN	interleukin 9 receptor	225	Fibronectin type-III.				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity	p.R225C(1)		NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	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)					GGCCAGGCTGCGTGTCCAGAT	0.587000													3	46					0	0	0.009096	0	0
MCTP1	79772	broad.mit.edu	37	5	94253649	94253649	+	Silent	SNP	C	C	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr5:94253649C>T	ENST00000515393.1	-	8	1301	c.1302G>A	c.(1300-1302)ctG>ctA	p.L434L	MCTP1_ENST00000505078.1_Intron|MCTP1_ENST00000505208.1_Silent_p.L213L|MCTP1_ENST00000429576.2_Intron|MCTP1_ENST00000312216.8_Silent_p.L213L	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	434					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	p.L434L(1)		breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TGCAGAAGCCCAGGACAGGAA	0.453000													11	21					0	0	0.001855	0	0
DOCK10	55619	broad.mit.edu	37	2	225657747	225657747	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr2:225657747G>A	ENST00000409592.3	-	47	5350	c.5237C>T	c.(5236-5238)tCg>tTg	p.S1746L	DOCK10_ENST00000258390.7_Missense_Mutation_p.S1752L			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1752	DHR-2.						GTP binding	p.S1750L(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		GGTATCCTCCGAGAGCAGGGA	0.443000													10	314					0	0	0.008291	0	0
TGIF2LX	90316	broad.mit.edu	37	X	89177700	89177700	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chrX:89177700G>A	ENST00000561129.2	+	1	746	c.616G>A	c.(616-618)Gtg>Atg	p.V206M	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.V206M			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	206						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.V206M(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						TCCAGAACTTGTGTCTCCAGA	0.567000													34	41					0	0	0.005524	0	0
OR4C15	81309	broad.mit.edu	37	11	55322295	55322295	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr11:55322295G>T	ENST00000314644.2	+	1	513	c.513G>T	c.(511-513)atG>atT	p.M171I		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M171I(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TCACAGCCATGGCCTATGATC	0.502000										HNSCC(20;0.049)			45	115					1.47857e-17	2.31694e-17	0.014410	1	0
CACNA1E	777	broad.mit.edu	37	1	181702074	181702074	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:181702074C>T	ENST00000526775.1	+	19	2960	c.2795C>T	c.(2794-2796)gCc>gTc	p.A932V	CACNA1E_ENST00000358338.5_Missense_Mutation_p.A883V|CACNA1E_ENST00000367573.2_Missense_Mutation_p.A951V|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A932V|CACNA1E_ENST00000357570.5_Missense_Mutation_p.A902V|CACNA1E_ENST00000367567.4_Missense_Mutation_p.A558V|CACNA1E_ENST00000367570.1_Missense_Mutation_p.A951V	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	951					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.A951V(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CTGGATGAAGCCATGCCCACT	0.607000													5	114					0	0	0.000602	0	0
POLQ	10721	broad.mit.edu	37	3	121208732	121208732	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr3:121208732C>A	ENST00000264233.5	-	16	3174	c.3046G>T	c.(3046-3048)Gtt>Ttt	p.V1016F		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1016					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	p.V1151F(2)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AAAGTCTGAACAACTTTCTTA	0.363000								DNA polymerases (catalytic subunits)					46	113					2.55665e-31	4.62631e-31	0.014410	1	0
TRPS1	7227	broad.mit.edu	37	8	116616109	116616109	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr8:116616109C>A	ENST00000395715.3	-	4	2664	c.2087G>T	c.(2086-2088)cGa>cTa	p.R696L	TRPS1_ENST00000519076.1_Missense_Mutation_p.R437L|TRPS1_ENST00000220888.5_Missense_Mutation_p.R683L|TRPS1_ENST00000519674.1_Missense_Mutation_p.R683L|TRPS1_ENST00000520276.1_Missense_Mutation_p.R687L	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	683	Mediates interaction with GLI3.				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	p.R683L(1)|p.R696L(1)		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)			CCTGTAGTGTCGGGAAATCTC	0.448000									Langer-Giedion syndrome				11	47					1.02788e-11	1.40124e-11	0.004990	1	0
ZNF480	147657	broad.mit.edu	37	19	52825656	52825656	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr19:52825656C>A	ENST00000595962.1	+	5	1219	c.1153C>A	c.(1153-1155)Cac>Aac	p.H385N	ZNF480_ENST00000334564.7_Missense_Mutation_p.H342N|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000335090.6_Missense_Mutation_p.H308N|ZNF480_ENST00000490272.1_3'UTR	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.H385N(1)|p.H366N(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TCAAAATTCGCACCTAGCACA	0.358000													24	90					3.28513e-13	4.67765e-13	0.003954	1	0
RNF8	9025	broad.mit.edu	37	6	37336320	37336320	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr6:37336320C>T	ENST00000373479.4	+	3	494	c.301C>T	c.(301-303)Cat>Tat	p.H101Y	RNF8_ENST00000479516.1_3'UTR|RNF8_ENST00000469731.1_Missense_Mutation_p.H101Y	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	101					cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding	p.H101Y(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						CTATTCCATTCATCAGGGAGA	0.418000													13	387					0	0	0.003163	0	0
ARAP3	64411	broad.mit.edu	37	5	141051750	141051750	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr5:141051750G>A	ENST00000239440.4	-	10	1569	c.1504C>T	c.(1504-1506)Cgg>Tgg	p.R502W	ARAP3_ENST00000508305.1_Missense_Mutation_p.R424W|ARAP3_ENST00000513878.1_Missense_Mutation_p.R164W	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	502	Arf-GAP.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	p.R502W(1)		NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GCACACTGCCGGTTGGCCCGA	0.617000													4	206					0	0	0.009096	0	0
ADNP2	22850	broad.mit.edu	37	18	77894491	77894491	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr18:77894491G>C	ENST00000262198.4	+	4	1650	c.1195G>C	c.(1195-1197)Ggg>Cgg	p.G399R		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	399	Pro-rich.				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G399R(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TGTTCGCCCTGGGGTTTTACC	0.567000													16	116					0	0	0.012319	0	0
ZW10	9183	broad.mit.edu	37	11	113608357	113608357	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr11:113608357C>A	ENST00000200135.3	-	14	2097	c.1953G>T	c.(1951-1953)aaG>aaT	p.K651N		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	651					cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding	p.K651_A652>NS(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		TCCCCATAGCCTTGCAATATA	0.433000													86	165					1.79992e-35	3.31621e-35	0.014410	1	0
TTN	7273	broad.mit.edu	37	2	179485223	179485223	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr2:179485223G>T	ENST00000589042.1	-	248	46249	c.46025C>A	c.(46024-46026)cCt>cAt	p.P15342H	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P6402H|TTN_ENST00000342175.6_Missense_Mutation_p.P6469H|TTN_ENST00000342992.6_Missense_Mutation_p.P12774H|TTN_ENST00000591111.1_Missense_Mutation_p.P13701H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P6277H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13701	Ig-like 97.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P12774H(2)|p.P6402H(1)|p.P6277H(1)|p.P6469H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTGTCAAAAGGCACTTCTTC	0.398000													23	106					3.01185e-09	3.839e-09	0.003954	1	0
RXFP4	339403	broad.mit.edu	37	1	155911749	155911749	+	Silent	SNP	G	G	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:155911749G>A	ENST00000368318.3	+	1	270	c.249G>A	c.(247-249)ctG>ctA	p.L83L		NM_181885.2	NP_871001.1	Q8TDU9	RL3R2_HUMAN	relaxin/insulin-like family peptide receptor 4	83						integral to membrane|plasma membrane	angiotensin type II receptor activity	p.L83L(1)		endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	13	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCTTCAACCTGGCTCTGGCGG	0.617000													10	88					0	0	0.010729	0	0
SI	6476	broad.mit.edu	37	3	164783080	164783080	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr3:164783080G>T	ENST00000264382.3	-	7	838	c.776C>A	c.(775-777)cCa>cAa	p.P259Q		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	259	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.P259Q(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AGTAAAAATTGGCCATGTTTT	0.318000										HNSCC(35;0.089)			22	89					3.01185e-09	3.839e-09	0.003954	1	0
DCPS	28960	broad.mit.edu	37	11	126215448	126215448	+	Silent	SNP	C	C	G	rs143294413	byFrequency	TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr11:126215448C>G	ENST00000263579.4	+	6	1283	c.954C>G	c.(952-954)acC>acG	p.T318T	DCPS_ENST00000530860.1_3'UTR	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN	decapping enzyme, scavenger	318					deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	exoribonuclease activity|protein binding	p.T318T(1)		endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)		GCACGCTCACCTTCGCCCTCA	0.622000													20	257					0	0	0.010504	0	0
CDHR1	92211	broad.mit.edu	37	10	85971993	85971993	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr10:85971993G>T	ENST00000372117.3	+	15	1715	c.1612G>T	c.(1612-1614)Gct>Tct	p.A538S	CDHR1_ENST00000440770.2_Missense_Mutation_p.A242S|CDHR1_ENST00000332904.3_Missense_Mutation_p.A538S	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	538	Cadherin 5.				homophilic cell adhesion		calcium ion binding|receptor activity	p.A538S(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						TAGCCTGGACGCTGAGGCCAC	0.547000													51	30					1.4374e-25	2.49697e-25	0.014410	1	0
TIE1	7075	broad.mit.edu	37	1	43783064	43783064	+	Silent	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:43783064C>A	ENST00000372476.3	+	15	2683	c.2604C>A	c.(2602-2604)gcC>gcA	p.A868A	TIE1_ENST00000433781.2_Silent_p.A513A|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	868	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.A868A(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGAACGCAGCCATCAAAATGC	0.592000													54	57					1.39924e-13	2.0112e-13	0.014410	1	0
DCAF12L2	340578	broad.mit.edu	37	X	125298530	125298530	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chrX:125298530C>A	ENST00000538699.1	-	2	1458	c.1378G>T	c.(1378-1380)Ggc>Tgc	p.G460C	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.G460C	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	460								p.G460C(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CTCCAGAGGCCTGCGTAGTTC	0.532000													36	36					2.26627e-22	3.78543e-22	0.007835	1	0
CFLAR	8837	broad.mit.edu	37	2	202025625	202025625	+	Silent	SNP	C	C	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr2:202025625C>T	ENST00000309955.2	+	9	1779	c.1264C>T	c.(1264-1266)Ctg>Ttg	p.L422L	CFLAR_ENST00000423241.2_Silent_p.L422L|CFLAR_ENST00000341582.6_Silent_p.L387L|CFLAR_ENST00000479953.2_Silent_p.L326L|CFLAR_ENST00000443227.1_Silent_p.L326L|CFLAR_ENST00000457277.1_Silent_p.L422L|CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000340870.5_Silent_p.L422L	NM_003879.5	NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	422	Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 subunits p18 and p10.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding	p.L422L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						CTCACCATCCCTGTACCTGCA	0.572000													17	27					0	0	0.008871	0	0
SI	6476	broad.mit.edu	37	3	164724627	164724627	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr3:164724627C>A	ENST00000264382.3	-	37	4445	c.4383G>T	c.(4381-4383)tgG>tgT	p.W1461C		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1461	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.W1461C(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TCATCTGTGACCATCCATAGA	0.348000										HNSCC(35;0.089)			12	64					6.31663e-08	7.69641e-08	0.003163	1	0
FAM47A	158724	broad.mit.edu	37	X	34149272	34149272	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chrX:34149272A>G	ENST00000346193.3	-	1	1175	c.1124T>C	c.(1123-1125)cTc>cCc	p.L375P		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	375								p.L375P(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CTCCGCGTGGAGACTGGACCC	0.637000													17	29					0	0	0.006122	0	0
UCHL5	51377	broad.mit.edu	37	1	192998665	192998665	+	Silent	SNP	T	T	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:192998665T>A	ENST00000367455.3	-	4	604	c.369A>T	c.(367-369)gcA>gcT	p.A123A	UCHL5_ENST00000367454.1_Silent_p.A123A|UCHL5_ENST00000367452.4_5'UTR|UCHL5_ENST00000530098.2_5'UTR|UCHL5_ENST00000367451.4_Silent_p.A123A|UCHL5_ENST00000367449.1_Silent_p.A123A|UCHL5_ENST00000367448.1_Silent_p.A123A	NM_015984.3	NP_057068.1	Q9Y5K5	UCHL5_HUMAN	ubiquitin carboxyl-terminal hydrolase L5	123					DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytosol|Ino80 complex|proteasome complex	endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.A123A(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1)	19						TACTCACAGCTGCATCAAAAC	0.338000													31	28					0	0	0.003755	0	0
MOAP1	64112	broad.mit.edu	37	14	93649561	93649561	+	Nonsense_Mutation	SNP	G	G	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr14:93649561G>A	ENST00000556883.1	-	2	1511	c.1027C>T	c.(1027-1029)Cag>Tag	p.Q343*	MOAP1_ENST00000298894.4_Nonsense_Mutation_p.Q343*			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	343					activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity	p.Q343*(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		AATATTGCCTGGAGAAGGGCC	0.473000													41	56					0	0	0.013114	0	0
HOXB13	10481	broad.mit.edu	37	17	46805354	46805354	+	Splice_Site	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr17:46805354C>A	ENST00000290295.7	-	1	1186		c.e1+1			NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN	homeobox B13						angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.?(1)		endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						AATAGAGGTACCTGCAAATGC	0.577000													45	114					3.05275e-18	4.84614e-18	0.013114	1	0
NLRP12	91662	broad.mit.edu	37	19	54304614	54304614	+	Nonsense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr19:54304614C>A	ENST00000324134.6	-	7	2791	c.2623G>T	c.(2623-2625)Gag>Tag	p.E875*	NLRP12_ENST00000345770.5_Nonsense_Mutation_p.E876*|NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000535162.1_Nonsense_Mutation_p.E875*|NLRP12_ENST00000391773.1_Nonsense_Mutation_p.E876*|NLRP12_ENST00000354278.3_Intron|NLRP12_ENST00000351894.4_Intron|NLRP12_ENST00000391775.3_Nonsense_Mutation_p.E875*	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	875					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.E875*(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GAGGCCAGCTCGTCACAGGCA	0.527000													21	32					3.73988e-18	5.9061e-18	0.006320	1	0
ATP10A	57194	broad.mit.edu	37	15	25936908	25936908	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr15:25936908T>A	ENST00000356865.6	-	15	3230	c.3119A>T	c.(3118-3120)cAg>cTg	p.Q1040L		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1040					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.Q1040L(2)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		ATCTGCCACCTGGATCATGCT	0.473000													86	74					0	0	0.014410	0	0
HYKK	123688	broad.mit.edu	37	15	78807396	78807396	+	Nonsense_Mutation	SNP	C	C	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr15:78807396C>T	ENST00000566332.1	+	3	484	c.424C>T	c.(424-426)Cag>Tag	p.Q142*	HYKK_ENST00000408962.2_Nonsense_Mutation_p.Q142*|HYKK_ENST00000360519.3_Nonsense_Mutation_p.Q142*|HYKK_ENST00000388988.4_Nonsense_Mutation_p.Q142*|HYKK_ENST00000569878.1_Nonsense_Mutation_p.Q142*|HYKK_ENST00000563233.1_Nonsense_Mutation_p.Q142*					hydroxylysine kinase									p.Q142*(1)									CGTCAGCCCCCAGCTATTGTA	0.443000													25	24					0	0	0.008361	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84605842	84605842	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr9:84605842G>A	ENST00000344803.2	+	4	504	c.457G>A	c.(457-459)Gct>Act	p.A153T		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1									p.A153T(4)									GAAAGATGCTGCTCCCTCTGT	0.547000													24	25					0	0	0.004656	0	0
TMTC1	83857	broad.mit.edu	37	12	29725102	29725102	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr12:29725102C>A	ENST00000256062.5	-	9	1617	c.1144G>T	c.(1144-1146)Gcc>Tcc	p.A382S	TMTC1_ENST00000381224.2_Missense_Mutation_p.A444S|TMTC1_ENST00000539277.1_Missense_Mutation_p.A490S|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000552618.1_Intron|TMTC1_ENST00000551659.1_Missense_Mutation_p.A552S	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	490						integral to membrane	binding	p.A382S(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					AGGAAATTGGCATAGTTGTAG	0.423000													20	97					2.79863e-10	3.64362e-10	0.004656	1	0
DNAH9	1770	broad.mit.edu	37	17	11622804	11622804	+	Nonsense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr17:11622804C>A	ENST00000262442.3	+	27	5774	c.5706C>A	c.(5704-5706)taC>taA	p.Y1902*	DNAH9_ENST00000454412.2_Nonsense_Mutation_p.Y1902*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1902	AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.Y1902*(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGATGGATTACAAGGTACAGT	0.612000													9	84					1.76689e-08	2.20138e-08	0.006214	1	0
VPS13A	23230	broad.mit.edu	37	9	79820312	79820312	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr9:79820312G>C	ENST00000360280.3	+	4	531	c.271G>C	c.(271-273)Gtg>Ctg	p.V91L	VPS13A_ENST00000376634.4_Missense_Mutation_p.V91L|VPS13A_ENST00000357409.5_Missense_Mutation_p.V91L|VPS13A_ENST00000376636.3_Missense_Mutation_p.V91L	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	91					Golgi to endosome transport|protein transport	intracellular	protein binding	p.V91L(3)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTTACTTATAGTGCCTTCTTC	0.229000													5	12					0	0	0.001855	0	0
SLC38A6	145389	broad.mit.edu	37	14	61519096	61519096	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr14:61519096G>C	ENST00000267488.4	+	16	1436	c.1320G>C	c.(1318-1320)ttG>ttC	p.L440F	SLC38A6_ENST00000456840.2_Intron|SLC38A6_ENST00000354886.2_Intron	NM_153811.2	NP_722518.2	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	440					amino acid transport|sodium ion transport	integral to membrane		p.L440F(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		TTGGAATTTTGGTTGGGAATT	0.259000													15	20					0	0	0.004007	0	0
KCTD8	386617	broad.mit.edu	37	4	44177089	44177089	+	Silent	SNP	T	T	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr4:44177089T>A	ENST00000360029.3	-	2	1423	c.1140A>T	c.(1138-1140)acA>acT	p.T380T		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	380						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.T380T(1)		central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						GTTGGTGAGCTGTTGCCTGCT	0.502000										HNSCC(17;0.042)			86	81					0	0	0.014410	0	0
LRFN2	57497	broad.mit.edu	37	6	40400206	40400206	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr6:40400206G>T	ENST00000338305.6	-	2	1189	c.647C>A	c.(646-648)cCc>cAc	p.P216H		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	216						cell junction|integral to membrane|postsynaptic membrane		p.P216H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGCAAAGATGGGATCAGGGGG	0.582000													14	70					2.94398e-08	3.63809e-08	0.007413	1	0
ZNF658	26149	broad.mit.edu	37	9	40774117	40774117	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr9:40774117A>T	ENST00000602553.1	-	5	1452	c.1158T>A	c.(1156-1158)caT>caA	p.H386Q	ZNF658_ENST00000377626.3_Missense_Mutation_p.H386Q|ZNF658_ENST00000441795.1_Missense_Mutation_p.H384Q			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H386Q(1)		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)		TGCATTTCCCATGTTCATCAG	0.398000													5	301					0	0	0.000602	0	0
POTEC	388468	broad.mit.edu	37	18	14542915	14542915	+	Silent	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr18:14542915C>A	ENST00000358970.5	-	1	230	c.231G>T	c.(229-231)acG>acT	p.T77T	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	77								p.T77T(1)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CCACGTTGCTCGTGCCGCTCC	0.577000													45	159					6.31075e-24	1.07477e-23	0.014410	1	0
NKX6-1	4825	broad.mit.edu	37	4	85416934	85416934	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr4:85416934C>A	ENST00000295886.4	-	2	955	c.734G>T	c.(733-735)gGa>gTa	p.G245V	NKX6-1_ENST00000515820.2_5'UTR	NM_006168.2	NP_006159.2	P78426	NKX61_HUMAN	NK6 homeobox 1	245	Repressor domain (By similarity).				detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus		p.G245V(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	15		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		GATCTGCTGTCCGGAAAAAGT	0.488000													51	84					4.00338e-15	5.96582e-15	0.014410	1	0
SPATA6	54558	broad.mit.edu	37	1	48764476	48764476	+	Missense_Mutation	SNP	C	C	A	rs144278281		TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:48764476C>A	ENST00000371847.3	-	13	1540	c.1376G>T	c.(1375-1377)cGa>cTa	p.R459L	SPATA6_ENST00000396199.3_Missense_Mutation_p.R387L|SPATA6_ENST00000371843.3_Missense_Mutation_p.R443L	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	459					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region		p.R459L(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						AAAGATGGGTCGGTGGGATTT	0.463000													21	242					1.10513e-12	1.55537e-12	0.014323	1	0
HIST1H4I	8294	broad.mit.edu	37	6	27107385	27107385	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr6:27107385G>T	ENST00000354348.2	+	1	310	c.298G>T	c.(298-300)Ggc>Tgc	p.G100C	HIST1H2BK_ENST00000396891.4_Intron	NM_003495.2	NP_003486.1	P62805	H4_HUMAN	histone cluster 1, H4i	100					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	p.G100C(1)		lung(1)	1						CACCCTCTATGGCTTCGGCGG	0.557000			T	BCL6	NHL								38	69					1.22674e-20	2.0104e-20	0.008740	1	0
GABRA6	2559	broad.mit.edu	37	5	161117334	161117334	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr5:161117334G>T	ENST00000523217.1	+	7	1013	c.771G>T	c.(769-771)gaG>gaT	p.E257D	GABRA6_ENST00000274545.5_Missense_Mutation_p.E267D	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	267					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	p.E267D(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTAATAAGGAGTCCGTCCCAG	0.383000										TCGA Ovarian(5;0.080)			8	157					5.18039e-06	5.98798e-06	0.003080	1	0
TRIM49	57093	broad.mit.edu	37	11	89531490	89531490	+	Missense_Mutation	SNP	G	G	C	rs143812880		TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr11:89531490G>C	ENST00000329758.1	-	8	1495	c.1167C>G	c.(1165-1167)tgC>tgG	p.C389W	TRIM49_ENST00000532501.2_Missense_Mutation_p.C312W	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	389	B30.2/SPRY.					intracellular	zinc ion binding	p.C389W(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TAAAGAGACTGCATTGAATGT	0.428000													34	64					0	0	0.004878	0	0
CHRDL1	91851	broad.mit.edu	37	X	109924833	109924833	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chrX:109924833C>T	ENST00000218054.4	-	10	1223	c.1027G>A	c.(1027-1029)Ggg>Agg	p.G343R	CHRDL1_ENST00000372042.1_Missense_Mutation_p.G345R|CHRDL1_ENST00000394797.4_Missense_Mutation_p.G343R|CHRDL1_ENST00000434224.1_Missense_Mutation_p.G264R|CHRDL1_ENST00000482160.1_Missense_Mutation_p.G265R|CHRDL1_ENST00000372045.1_Missense_Mutation_p.G337R|CHRDL1_ENST00000444321.2_Missense_Mutation_p.G344R	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	337					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region		p.G343R(1)		endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						GTTTCTTCCCCGCAGAAGTAG	0.448000													16	175					0	0	0.004007	0	0
ARRDC3	57561	broad.mit.edu	37	5	90670930	90670930	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr5:90670930C>T	ENST00000265138.3	-	5	945	c.679G>A	c.(679-681)Gcc>Acc	p.A227T		NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	227					signal transduction	cytoplasm	protein binding	p.A227T(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		TGGTAAATGGCTGCCTTTGGC	0.418000													41	33					0	0	0.005524	0	0
NRCAM	4897	broad.mit.edu	37	7	107832198	107832198	+	Silent	SNP	G	G	C			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr7:107832198G>C	ENST00000379028.3	-	18	2348	c.1878C>G	c.(1876-1878)tcC>tcG	p.S626S	NRCAM_ENST00000413765.2_Silent_p.S607S|NRCAM_ENST00000351718.4_Silent_p.S620S|NRCAM_ENST00000379022.4_Silent_p.S626S|NRCAM_ENST00000379024.4_Silent_p.S607S|NRCAM_ENST00000425651.2_Silent_p.S626S			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	626	Ig-like 6.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	p.S620S(1)|p.S626S(1)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CAGCGCTGGCGGAGACGCTGT	0.458000													12	57					0	0	0.013537	0	0
KRT6A	3853	broad.mit.edu	37	12	52884515	52884515	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr12:52884515C>A	ENST00000330722.6	-	5	983	c.915G>T	c.(913-915)gaG>gaT	p.E305D		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	305	Coil 1B.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	p.E305D(1)		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)		TCTGGGACAGCTCCTGCAGAA	0.502000													52	79					9.59449e-18	1.50735e-17	0.014410	1	0
IRS1	3667	broad.mit.edu	37	2	227660836	227660836	+	Silent	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr2:227660836C>A	ENST00000305123.4	-	1	3639	c.2619G>T	c.(2617-2619)cgG>cgT	p.R873R		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	873					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	p.R873R(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		gctCTCGGGCCCGAGGTAAGG	0.617000													27	36					6.07407e-21	1.00224e-20	0.007291	1	0
MYBBP1A	10514	broad.mit.edu	37	17	4446447	4446447	+	Missense_Mutation	SNP	G	G	A	rs148844016	byFrequency	TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr17:4446447G>A	ENST00000254718.4	-	20	2959	c.2653C>T	c.(2653-2655)Cgt>Tgt	p.R885C	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.R885C			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	885					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	p.R885C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						CGCCGGGCACGGCACAGGTGG	0.672000													13	14					0	0	0.004007	0	0
ANLN	54443	broad.mit.edu	37	7	36438966	36438966	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr7:36438966G>C	ENST00000265748.2	+	3	672	c.451G>C	c.(451-453)Gag>Cag	p.E151Q	ANLN_ENST00000396068.2_Missense_Mutation_p.E151Q	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	151	Interaction with CD2AP.|Nuclear localization.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	p.E151Q(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						AAAACTTGCAGAGCAACGGCG	0.463000													4	88					0	0	0.000602	0	0
IGSF3	3321	broad.mit.edu	37	1	117150665	117150665	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:117150665T>C	ENST00000369486.3	-	5	1886	c.1121A>G	c.(1120-1122)tAc>tGc	p.Y374C	IGSF3_ENST00000318837.6_Missense_Mutation_p.Y374C|IGSF3_ENST00000369483.1_Missense_Mutation_p.Y374C	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	374	Ig-like C2-type 3.					integral to membrane		p.Y374C(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CCGGCAGTTGTATTTCCCGCT	0.552000													72	135					0	0	0.014410	0	0
CDRT15	146822	broad.mit.edu	37	17	14140072	14140072	+	Nonsense_Mutation	SNP	G	G	A	rs147270904	byFrequency	TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr17:14140072G>A	ENST00000420162.2	-	1	94	c.79C>T	c.(79-81)Cga>Tga	p.R27*	CDRT15_ENST00000431716.2_Missense_Mutation_p.P2L	NM_001007530.1	NP_001007531.1	Q96T59	CDRTF_HUMAN	CMT1A duplicated region transcript 15	27								p.R27*(1)		endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AGCCTTCTTCGGCATCGTCGG	0.597000													22	30					0	0	0.004656	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12885059	12885059	+	Missense_Mutation	SNP	C	C	G	rs143004725	by1000genomes	TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:12885059C>G	ENST00000535591.1	-	4	1247	c.1052G>C	c.(1051-1053)tGc>tCc	p.C351S		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	351								p.C351S(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGTGGCCATGCAGATGGGATT	0.532000													4	249					0	0	0.001168	0	0
ZNF415	55786	broad.mit.edu	37	19	53612523	53612523	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr19:53612523G>T	ENST00000455735.2	-	7	1239	c.919C>A	c.(919-921)Ctt>Att	p.L307I	ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000243643.4_Missense_Mutation_p.L259I|ZNF415_ENST00000448501.1_Missense_Mutation_p.L307I|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000421033.1_Missense_Mutation_p.L271I|ZNF415_ENST00000440291.1_Missense_Mutation_p.L246I|ZNF415_ENST00000500065.4_Missense_Mutation_p.L259I|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000601493.1_Missense_Mutation_p.L29I			Q09FC8	ZN415_HUMAN	zinc finger protein 415	307					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding	p.L259I(1)		breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		TGACGCGCAAGGTTTGATTTT	0.423000													25	118					7.53681e-25	1.29446e-24	0.006320	1	0
CDK11A	728642	broad.mit.edu	37	1	1647842	1647842	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:1647842C>T	ENST00000356200.3	-	4	563	c.329G>A	c.(328-330)cGg>cAg	p.R110Q	CDK11A_ENST00000404249.3_Missense_Mutation_p.R144Q|CDK11A_ENST00000378633.1_Missense_Mutation_p.R134Q|CDK11A_ENST00000378635.3_Missense_Mutation_p.R134Q|CDK11A_ENST00000378638.2_Missense_Mutation_p.R110Q|CDK11A_ENST00000358779.5_Missense_Mutation_p.R134Q|CDK11A_ENST00000357760.2_Missense_Mutation_p.R134Q|RP1-283E3.8_ENST00000598846.1_RNA					cyclin-dependent kinase 11A									p.R134Q(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						TTCCCATTCCCGGCGAGCTTT	0.488000													8	234					0	0	0.004482	0	0
SI	6476	broad.mit.edu	37	3	164755795	164755795	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr3:164755795C>A	ENST00000264382.3	-	21	2381	c.2319G>T	c.(2317-2319)tgG>tgT	p.W773C		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	773	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.W773C(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTTGTTTCCTCCATGGCCTTT	0.323000										HNSCC(35;0.089)			40	51					8.0703e-11	1.06901e-10	0.014410	1	0
FAM83C	128876	broad.mit.edu	37	20	33874942	33874942	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr20:33874942G>T	ENST00000374408.3	-	4	1736	c.1640C>A	c.(1639-1641)tCc>tAc	p.S547Y		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	547								p.S547Y(1)		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)			CTGGCTTGGGGACAACCTCCT	0.672000													13	16					9.05144e-12	1.23948e-11	0.001855	1	0
DCUN1D4	23142	broad.mit.edu	37	4	52740465	52740465	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr4:52740465C>G	ENST00000334635.5	+	4	345	c.165C>G	c.(163-165)gaC>gaG	p.D55E	DCUN1D4_ENST00000381437.4_5'UTR|DCUN1D4_ENST00000451288.2_Missense_Mutation_p.D99E|DCUN1D4_ENST00000513800.1_3'UTR|DCUN1D4_ENST00000381441.3_Missense_Mutation_p.D55E	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	55								p.D55E(1)		endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			GTTCTTCAGACTGCTTTAATA	0.388000													5	130					0	0	0.001984	0	0
SYT4	6860	broad.mit.edu	37	18	40853678	40853678	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr18:40853678T>A	ENST00000255224.3	-	2	1084	c.716A>T	c.(715-717)cAc>cTc	p.H239L	SYT4_ENST00000590752.1_Missense_Mutation_p.H221L|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	239	C2 1.|Phospholipid binding (Probable).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	p.H239L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						AATTGTGAAGTGCAAGGCCAA	0.383000													47	94					0	0	0.014410	0	0
C17orf77	146723	broad.mit.edu	37	17	72588362	72588362	+	Silent	SNP	C	C	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr17:72588362C>T	ENST00000392620.1	+	3	539	c.177C>T	c.(175-177)ctC>ctT	p.L59L	CD300LD_ENST00000375352.1_5'UTR|C17orf77_ENST00000328023.2_Silent_p.L59L	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	59						extracellular region		p.L59L(1)		breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						CCTCTCCTCTCCTTGGTGATC	0.542000													32	56					0	0	0.010818	0	0
CHD7	55636	broad.mit.edu	37	8	61767075	61767075	+	Nonsense_Mutation	SNP	G	G	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr8:61767075G>A	ENST00000423902.2	+	32	7408	c.6929G>A	c.(6928-6930)tGg>tAg	p.W2310*	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2310					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.W2310*(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TTCTCGTTTTGGCCTAAGGTT	0.418000													4	116					0	0	0.009096	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5191880	5191880	+	Silent	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr5:5191880C>A	ENST00000274181.7	+	8	1428	c.1290C>A	c.(1288-1290)acC>acA	p.T430T	ADAMTS16_ENST00000511368.1_Silent_p.T430T	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	430	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.T430K(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TGGCCTTCACCATTGCCCATG	0.443000													14	120					9.16793e-09	1.1493e-08	0.004990	1	0
LINGO2	158038	broad.mit.edu	37	9	27948881	27948881	+	Nonsense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr9:27948881C>A	ENST00000379992.2	-	6	2238	c.1789G>T	c.(1789-1791)Gga>Tga	p.G597*	LINGO2_ENST00000308675.3_Nonsense_Mutation_p.G597*	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	597						integral to membrane		p.G597L(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CTCCTGGGTCCAGCTACCTCC	0.463000													53	49					9.55421e-19	1.53676e-18	0.014410	1	0
CCDC70	83446	broad.mit.edu	37	13	52439526	52439526	+	Silent	SNP	G	G	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr13:52439526G>A	ENST00000242819.4	+	2	308	c.12G>A	c.(10-12)ccG>ccA	p.P4P		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	4						extracellular region|plasma membrane		p.P4P(1)		breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		TGGCCACCCCGCCATTCCGGC	0.582000													14	49					0	0	0.002450	0	0
SLIT1	6585	broad.mit.edu	37	10	98808755	98808755	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr10:98808755G>T	ENST00000266058.4	-	14	1667	c.1422C>A	c.(1420-1422)aaC>aaA	p.N474K	SLIT1_ENST00000371070.4_Missense_Mutation_p.N474K|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	474	LRRCT 2.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	p.N474K(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CGATGCGCTTGTTGGCGAGGC	0.637000													52	44					2.41709e-19	3.91891e-19	0.014410	1	0
ZNF841	284371	broad.mit.edu	37	19	52568499	52568499	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr19:52568499C>A	ENST00000389534.4	-	7	3095	c.2636G>T	c.(2635-2637)tGt>tTt	p.C879F	ZNF841_ENST00000426391.2_Missense_Mutation_p.C763F|ZNF841_ENST00000359973.2_Missense_Mutation_p.C455F|ZNF841_ENST00000594295.1_Missense_Mutation_p.C879F|ZNF432_ENST00000598446.1_Intron	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN	zinc finger protein 841	763					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C879F(2)|p.C320F(1)|p.C455F(1)		breast(1)|endometrium(4)|kidney(3)|lung(3)	11						ACACTCATTACATTTATAAGG	0.418000													11	37					5.50884e-06	6.33152e-06	0.013537	1	0
KCNK18	338567	broad.mit.edu	37	10	118969235	118969235	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr10:118969235C>A	ENST00000334549.1	+	3	580	c.580C>A	c.(580-582)Ccc>Acc	p.P194T		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	194						integral to membrane|plasma membrane		p.P194T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		GGACCCCAAGCCCGCAGATGA	0.522000													48	31					2.215e-12	3.06354e-12	0.011902	1	0
CFH	3075	broad.mit.edu	37	1	196645149	196645149	+	Silent	SNP	T	T	C			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:196645149T>C	ENST00000367429.4	+	4	621	c.381T>C	c.(379-381)cgT>cgC	p.R127R	CFH_ENST00000359637.2_Silent_p.R127R|CFH_ENST00000439155.2_Silent_p.R127R	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	127	Sushi 2.		R -> L (in CFH deficiency; with membranoproliferative glomerulonephritis).		complement activation, alternative pathway	extracellular space		p.R127R(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTAATTACCGTGAATGTGACA	0.303000													18	192					0	0	0.008871	0	0
ANKRD27	84079	broad.mit.edu	37	19	33122400	33122400	+	Splice_Site	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr19:33122400C>A	ENST00000306065.4	-	13	1275	c.1116_splice	c.e13-1	p.E373_splice		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	373					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	p.E373*(1)		breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					CCCTCAGACTCCTGCAGGGAA	0.502000													29	33					4.4194e-11	5.90549e-11	0.013726	1	0
PRSS1	5644	broad.mit.edu	37	7	142459634	142459634	+	Silent	SNP	G	G	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr7:142459634G>A	ENST00000486171.1	+	4	269	c.252G>A	c.(250-252)caG>caA	p.Q84Q	PRSS1_ENST00000311737.7_Silent_p.Q70Q			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	70	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	p.Q70Q(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			GCCGCATCCAGGTGAGACTGG	0.577000													36	245					0	0	0.007835	0	0
CSMD3	114788	broad.mit.edu	37	8	114031359	114031359	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr8:114031359G>T	ENST00000297405.5	-	6	1211	c.967C>A	c.(967-969)Ctc>Atc	p.L323I	CSMD3_ENST00000343508.3_Missense_Mutation_p.L283I|CSMD3_ENST00000455883.2_Missense_Mutation_p.L323I|CSMD3_ENST00000352409.3_Missense_Mutation_p.L323I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	323	CUB 2.					integral to membrane|plasma membrane		p.L323I(1)|p.L283I(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGCAGTCTGAGCCAGTTTTTG	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			80	133					3.11363e-52	5.97188e-52	0.014410	1	0
PCDHA11	56138	broad.mit.edu	37	5	140250004	140250004	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr5:140250004G>C	ENST00000398640.2	+	1	1316	c.1316G>C	c.(1315-1317)aGg>aCg	p.R439T	PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018902.3	NP_061725.1												p.R439T(1)		breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCACGGCCAGGGTATCCGTG	0.642000													75	71					0	0	0.014410	0	0
MC3R	4159	broad.mit.edu	37	20	54824013	54824013	+	Silent	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr20:54824013C>A	ENST00000243911.2	+	1	226	c.114C>A	c.(112-114)gtC>gtA	p.V38V		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	75					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	p.V75V(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			GTGAGCAGGTCTTCATCAAGC	0.582000													54	103					1.08241e-25	1.88568e-25	0.014410	1	0
AP3B2	8120	broad.mit.edu	37	15	83333147	83333147	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr15:83333147C>G	ENST00000261722.3	-	18	2383	c.2176G>C	c.(2176-2178)Gat>Cat	p.D726H	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.D745H|AP3B2_ENST00000535348.1_Missense_Mutation_p.D694H	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	726	Glu/Ser-rich.				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	p.D725H(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			TTCTCCTCATCCTCATCCTGG	0.567000													11	44					0	0	0.002450	0	0
IFFO1	25900	broad.mit.edu	37	12	6664921	6664921	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr12:6664921T>A	ENST00000336604.4	-	1	316	c.275A>T	c.(274-276)cAt>cTt	p.H92L	IFFO1_ENST00000356896.4_Missense_Mutation_p.H92L|IFFO1_ENST00000396840.2_Missense_Mutation_p.H92L	NM_080730.4	NP_542768.2	Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	92						intermediate filament		p.H92L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						CTCCAGCTCATGCACCTTGGC	0.672000													7	48					0	0	0.006214	0	0
ANTXR1	84168	broad.mit.edu	37	2	69298889	69298889	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr2:69298889A>T	ENST00000303714.4	+	5	704	c.382A>T	c.(382-384)Agt>Tgt	p.S128C	ANTXR1_ENST00000409349.3_Missense_Mutation_p.S128C|ANTXR1_ENST00000409829.3_Missense_Mutation_p.S128C	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	128	VWFA.				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	p.S128C(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TTTTCAGGCCAGTGAGCAGAT	0.358000									Familial Infantile Hemangioma				42	104					0	0	0.014410	0	0
FXYD6-FXYD2	100533181	broad.mit.edu	37	11	117711080	117711080	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr11:117711080G>T	ENST00000532984.1	-	5	256	c.176C>A	c.(175-177)cCc>cAc	p.P59H	FXYD6_ENST00000527429.1_Silent_p.A71A|FXYD6_ENST00000527717.1_Silent_p.A71A|FXYD6_ENST00000526014.1_Silent_p.A71A|FXYD6_ENST00000260282.4_Silent_p.A71A|FXYD6_ENST00000524656.1_Silent_p.A71A|FXYD6_ENST00000584394.1_Intron|FXYD6_ENST00000584230.1_Silent_p.A71A|FXYD6_ENST00000583233.1_5'UTR|FXYD6_ENST00000540359.1_Silent_p.A71A|FXYD6_ENST00000539526.1_Silent_p.A71A|FXYD6_ENST00000530956.1_Silent_p.A71A|FXYD6_ENST00000529335.2_Silent_p.A70A	NM_001243598.2	NP_001230527.1												p.A71A(1)									CATCTCCTGGGGCCCTGCAGG	0.597000													36	61					1.836e-18	2.9376e-18	0.003755	1	0
CNGA4	1262	broad.mit.edu	37	11	6263036	6263036	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr11:6263036G>T	ENST00000533426.1	+	5	751	c.600G>T	c.(598-600)agG>agT	p.R200S	CNGA4_ENST00000379936.2_Intron			Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	0					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTGTTCCAGGGACAAGGATG	0.522000													27	100					1.17739e-12	1.64187e-12	0.005443	1	0
ACE	1636	broad.mit.edu	37	17	61562712	61562712	+	Silent	SNP	C	C	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr17:61562712C>T	ENST00000577647.1	+	2	360	c.315C>T	c.(313-315)acC>acT	p.T105T	ACE_ENST00000490216.2_Silent_p.T105T|ACE_ENST00000428043.1_Silent_p.T679T|ACE_ENST00000413513.3_Silent_p.T105T|ACE_ENST00000290863.6_Silent_p.T105T|ACE_ENST00000290866.4_Silent_p.T679T|ACE_ENST00000421982.2_5'UTR			P12821	ACE_HUMAN	angiotensin I converting enzyme	679	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	p.T105T(1)|p.T679T(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CCAACATCACCACAGAGACCA	0.567000													12	42					0	0	0.013537	0	0
L2HGDH	79944	broad.mit.edu	37	14	50750751	50750751	+	Splice_Site	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr14:50750751C>A	ENST00000267436.4	-	5	938	c.540_splice	c.e5-1	p.G181_splice	L2HGDH_ENST00000261699.4_Splice_Site_p.G181_splice|L2HGDH_ENST00000555423.1_Splice_Site_p.G181_splice|L2HGDH_ENST00000555610.1_Splice_Site_p.G207_splice|L2HGDH_ENST00000421284.3_Splice_Site_p.G181_splice			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	181					2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity	p.?(1)		kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					GCCATTAGACCCTGAAACAGA	0.373000													17	82					5.35267e-07	6.43166e-07	0.007413	1	0
AQR	9716	broad.mit.edu	37	15	35240475	35240475	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr15:35240475G>C	ENST00000156471.5	-	5	545	c.320C>G	c.(319-321)cCt>cGt	p.P107R		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	107						catalytic step 2 spliceosome	RNA binding	p.P107R(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		CTCCCATGCAGGCACGTTTTC	0.378000													4	174					0	0	0.009096	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6424235	6424235	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr12:6424235G>A	ENST00000449001.2	+	3	757	c.263G>A	c.(262-264)cGg>cAg	p.R88Q	PLEKHG6_ENST00000011684.7_Missense_Mutation_p.R120Q|PLEKHG6_ENST00000396988.3_Missense_Mutation_p.R120Q|PLEKHG6_ENST00000536531.1_Missense_Mutation_p.R120Q	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	120					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.R120Q(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						GGGATGCCCCGGCTGCCCCCT	0.637000													23	52					0	0	0.005443	0	0
DENND1B	163486	broad.mit.edu	37	1	197643291	197643291	+	Silent	SNP	T	T	C			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:197643291T>C	ENST00000235453.4	-	5	382	c.105A>G	c.(103-105)ctA>ctG	p.L35L	DENND1B_ENST00000400967.2_Silent_p.L35L|DENND1B_ENST00000367396.3_Silent_p.L45L			Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	45	UDENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	p.L35L(1)|p.L45L(1)		NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						GCACACTCTGTAGTATTTCCT	0.269000													7	9					0	0	0.006214	0	0
CPO	130749	broad.mit.edu	37	2	207814375	207814375	+	Nonsense_Mutation	SNP	A	A	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr2:207814375A>T	ENST00000272852.3	+	2	149	c.103A>T	c.(103-105)Aag>Tag	p.K35*		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	35					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	p.K35*(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		GATTGTGGACAAGTCAGTGAG	0.498000													44	64					0	0	0.014410	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100452831	100452831	+	Nonsense_Mutation	SNP	G	G	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr12:100452831G>A	ENST00000279907.7	-	14	2436	c.2224C>T	c.(2224-2226)Cag>Tag	p.Q742*	UHRF1BP1L_ENST00000545232.2_Nonsense_Mutation_p.Q392*	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	742								p.Q742*(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TTACAAGTCTGCGGCTCTTTT	0.408000													22	142					0	0	0.002780	0	0
KIF5B	3799	broad.mit.edu	37	10	32337440	32337440	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr10:32337440T>C	ENST00000302418.4	-	2	623	c.166A>G	c.(166-168)Aca>Gca	p.T56A		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	56	Kinesin-motor.				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity	p.T56A(1)	KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				TCTTGAGATGTGCTTGACTGG	0.333000			T	"""RET, ALK"""	NSCLC								34	130					0	0	0.007835	0	0
NAP1L1	4673	broad.mit.edu	37	12	76454042	76454042	+	Missense_Mutation	SNP	T	T	G			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr12:76454042T>G	ENST00000261182.8	-	5	710	c.224A>C	c.(223-225)aAa>aCa	p.K75T	NAP1L1_ENST00000393263.3_Missense_Mutation_p.K75T|NAP1L1_ENST00000549596.1_Missense_Mutation_p.K75T|NAP1L1_ENST00000552342.1_Missense_Mutation_p.K75T|NAP1L1_ENST00000547773.1_Missense_Mutation_p.K12T|NAP1L1_ENST00000431879.3_Missense_Mutation_p.K34T|NAP1L1_ENST00000535020.2_Missense_Mutation_p.K75T|NAP1L1_ENST00000548044.1_Missense_Mutation_p.K34T|NAP1L1_ENST00000544816.1_5'UTR|NAP1L1_ENST00000542344.1_Missense_Mutation_p.K34T	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	75					DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding	p.K75T(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				CACTCGTCTTTTAACTACCCT	0.383000													28	113					0	0	0.013726	0	0
LILRB4	11006	broad.mit.edu	37	19	55175787	55175787	+	Nonsense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr19:55175787C>A	ENST00000391736.1	+	6	821	c.506C>A	c.(505-507)tCa>tAa	p.S169*	LILRB4_ENST00000391734.3_Nonsense_Mutation_p.S169*|LILRB4_ENST00000391733.3_Nonsense_Mutation_p.S169*|LILRB4_ENST00000430952.2_Nonsense_Mutation_p.S169*|LILRB4_ENST00000270452.2_Nonsense_Mutation_p.S169*	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	169	Ig-like C2-type 2.					integral to membrane|plasma membrane	antigen binding|receptor activity	p.S169*(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CATCTGAGATCAGAGCACGGA	0.587000													22	73					1.16021e-09	1.49768e-09	0.007291	1	0
PIK3CB	5291	broad.mit.edu	37	3	138478125	138478125	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr3:138478125C>G	ENST00000477593.1	-	2	134	c.61G>C	c.(61-63)Gat>Cat	p.D21H	PIK3CB_ENST00000289153.2_Missense_Mutation_p.D21H			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	21					activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.D21H(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						ATCTGTGAATCCACCGCCCAG	0.453000													28	57					0	0	0.012213	0	0
UGT2B4	7363	broad.mit.edu	37	4	70346380	70346380	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr4:70346380C>A	ENST00000305107.6	-	6	1605	c.1559G>T	c.(1558-1560)aGa>aTa	p.R520I	UGT2B4_ENST00000512583.1_3'UTR|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Missense_Mutation_p.R384I	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	520					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.R520I(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CTTTCCTGTTCTAACAAACTT	0.418000													67	86					7.1157e-29	1.27245e-28	0.014410	1	0
HOXB8	3218	broad.mit.edu	37	17	46691934	46691934	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr17:46691934C>A	ENST00000239144.4	-	1	367	c.133G>T	c.(133-135)Ggc>Tgc	p.G45C	HOXB8_ENST00000576562.1_Missense_Mutation_p.G45C|HOXB7_ENST00000567101.1_Intron	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	45						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G45C(1)		large_intestine(1)|lung(8)|urinary_tract(2)	11						AAGCTGCCGCCGCTGCTGGGA	0.657000													3	10					0.00448238	0.00479804	0.004482	1	0
BNIP3P1	319138	broad.mit.edu	37	14	28733848	28733848	+	RNA	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr14:28733848G>T	ENST00000550043.1	+	0	253																											GGGAAAGGGGGCAGTGTTCCA	0.547000													12	44					0.000151284	0.000168463	0.001855	1	0
RXFP1	59350	broad.mit.edu	37	4	159538291	159538291	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr4:159538291T>C	ENST00000307765.5	+	9	940	c.689T>C	c.(688-690)aTg>aCg	p.M230T	RXFP1_ENST00000470033.1_Missense_Mutation_p.M197T|RXFP1_ENST00000448688.2_Missense_Mutation_p.M149T|RXFP1_ENST00000343542.5_Missense_Mutation_p.M230T|RXFP1_ENST00000460056.2_Missense_Mutation_p.M149T	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	230						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	p.M230T(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		AGAGTCCTGATGAATAACGTC	0.373000													24	110					0	0	0.003954	0	0
ATP8A2	51761	broad.mit.edu	37	13	26114522	26114522	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr13:26114522G>C	ENST00000381655.2	+	8	789	c.647G>C	c.(646-648)cGt>cCt	p.R216P	ATP8A2_ENST00000255283.8_Missense_Mutation_p.R176P	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	176					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.R216P(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CTTAAAATACGTCAGGTAAAG	0.388000													39	56					0	0	0.011902	0	0
LPAL2	80350	broad.mit.edu	37	6	160913901	160913901	+	RNA	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr6:160913901G>T	ENST00000335388.5	-	0	419					NR_028092.1													p.N101K(1)		large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		ACCGTGTCAGGTTGCAGTACT	0.502000													32	109					5.91797e-21	9.80415e-21	0.012213	1	0
ZZEF1	23140	broad.mit.edu	37	17	3961350	3961350	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr17:3961350C>A	ENST00000381638.2	-	32	5227	c.5103G>T	c.(5101-5103)caG>caT	p.Q1701H		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1701							calcium ion binding|zinc ion binding	p.Q1701H(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GATCTGGTAACTGAATATCAA	0.473000													30	28					4.4194e-11	5.90549e-11	0.013726	1	0
PCDH18	54510	broad.mit.edu	37	4	138452894	138452894	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr4:138452894G>A	ENST00000344876.4	-	1	735	c.349C>T	c.(349-351)Cat>Tat	p.H117Y	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_5'UTR|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.H117Y	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	117	Cadherin 1.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.H117Y(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					AGCTGCAGATGCTCTGTGGGT	0.418000													21	206					0	0	0.012319	0	0
TTN	7273	broad.mit.edu	37	2	179395553	179395553	+	Silent	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr2:179395553G>T	ENST00000589042.1	-	358	106013	c.105789C>A	c.(105787-105789)gcC>gcA	p.A35263A	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000359218.5_Silent_p.A26323A|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000342175.6_Silent_p.A26390A|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.A32695A|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.A33622A|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.A26198A|TTN-AS1_ENST00000587944.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33622							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.A32695A(1)|p.A26323A(1)|p.A32693A(1)|p.A26390A(1)|p.A26198A(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGGTGATACGGCTTTCGGGT	0.498000													33	47					4.11147e-13	5.8406e-13	0.003755	1	0
CERS6	253782	broad.mit.edu	37	2	169622131	169622131	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr2:169622131G>T	ENST00000305747.6	+	9	1462	c.875G>T	c.(874-876)tGg>tTg	p.W292L	CERS6_ENST00000392687.4_Missense_Mutation_p.W292L	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	292	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	p.W292L(1)									TTTGAAAGCTGGGAGATCGTT	0.413000													38	110					1.60099e-16	2.4396e-16	0.004878	1	0
ADH6	130	broad.mit.edu	37	4	100126133	100126133	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr4:100126133A>T	ENST00000394899.2	-	8	1145	c.1052T>A	c.(1051-1053)cTg>cAg	p.L351Q	ADH6_ENST00000237653.7_Missense_Mutation_p.L351Q|ADH6_ENST00000407820.2_Missense_Mutation_p.L142Q|RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394897.1_3'UTR	NM_001102470.1	NP_001095940.1	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	351					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding	p.L351Q(2)		breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	ATCAAGATTCAGAGTATGAGT	0.368000													59	115					0	0	0.014410	0	0
JMJD1C	221037	broad.mit.edu	37	10	64973792	64973792	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr10:64973792G>A	ENST00000399262.2	-	8	2353	c.2135C>T	c.(2134-2136)aCa>aTa	p.T712I	JMJD1C_ENST00000402544.1_Missense_Mutation_p.T493I|JMJD1C_ENST00000399251.1_Missense_Mutation_p.T493I|JMJD1C_ENST00000542921.1_Missense_Mutation_p.T530I	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	712					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	p.T493I(1)|p.T712I(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TCTGTAAACTGTAAAATGCTC	0.383000													32	142					0	0	0.009535	0	0
DISP1	84976	broad.mit.edu	37	1	223178964	223178964	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:223178964C>A	ENST00000284476.6	+	8	4389	c.4225C>A	c.(4225-4227)Ccc>Acc	p.P1409T		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1409					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	p.P1409T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GTGTTGCGACCCCGAGAATAA	0.483000													64	57					2.01871e-26	3.53711e-26	0.014410	1	0
SYT4	6860	broad.mit.edu	37	18	40853766	40853766	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr18:40853766C>A	ENST00000255224.3	-	2	996	c.628G>T	c.(628-630)Gtg>Ttg	p.V210L	SYT4_ENST00000590752.1_Missense_Mutation_p.V192L|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	210	C2 1.|Phospholipid binding (Probable).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	p.V210L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TTTCTCAGCACTCTAGTTTTC	0.448000													59	98					1.14385e-22	1.91588e-22	0.014410	1	0
SLC6A9	6536	broad.mit.edu	37	1	44477388	44477388	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:44477388G>T	ENST00000360584.2	-	2	285	c.94C>A	c.(94-96)Ctt>Att	p.L32I	SLC6A9_ENST00000492434.2_Intron|SLC6A9_ENST00000357730.2_Intron|SLC6A9_ENST00000372306.3_Intron|SLC6A9_ENST00000475075.2_Intron|SLC6A9_ENST00000372310.3_Intron|SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000537678.1_Intron	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	32						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.L32I(1)		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)	ACAGGGAGAAGCGTCACCTGC	0.607000													10	60					0.000442599	0.000485741	0.006214	1	0
TAS2R40	259286	broad.mit.edu	37	7	142919493	142919493	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr7:142919493A>G	ENST00000408947.3	+	1	364	c.322A>G	c.(322-324)Aat>Gat	p.N108D		NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	108					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.N108D(2)		kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					GAACCATTCCAATCTCTGGTT	0.383000													14	327					0	0	0.002450	0	0
SRBD1	55133	broad.mit.edu	37	2	45800477	45800477	+	Nonsense_Mutation	SNP	G	G	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr2:45800477G>A	ENST00000263736.4	-	9	1236	c.1174C>T	c.(1174-1176)Cag>Tag	p.Q392*		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	392					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	p.Q392*(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TGTCTCTTCTGGCACCTGTTC	0.333000													15	40					0	0	0.003163	0	0
XIST	7503	broad.mit.edu	37	X	73067895	73067895	+	RNA	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chrX:73067895G>T	ENST00000429829.1	-	0	4693					NR_001564.2																						TGCACAGGAAGAGGGACAAAT	0.448000													27	36					8.58068e-18	1.35157e-17	0.007291	1	0
KANSL1	284058	broad.mit.edu	37	17	44108914	44108914	+	Silent	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr17:44108914C>A	ENST00000262419.6	-	15	3716	c.3246G>T	c.(3244-3246)tcG>tcT	p.S1082S	KANSL1_ENST00000575318.1_Silent_p.S1018S|KANSL1_ENST00000393476.3_Silent_p.S376S|KANSL1_ENST00000574590.1_Silent_p.S1082S|KANSL1_ENST00000572904.1_Silent_p.S1082S|KANSL1_ENST00000432791.1_Silent_p.S1082S	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	1082						MLL1 complex	protein binding	p.S1082S(1)									CAATGGGAGGCGAGGTGGGCG	0.637000													8	11					3.07112e-06	3.56343e-06	0.010729	1	0
CACNA1I	8911	broad.mit.edu	37	22	40066860	40066860	+	Silent	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr22:40066860C>A	ENST00000336649.4	+	29	4458	c.4458C>A	c.(4456-4458)atC>atA	p.I1486I	CACNA1I_ENST00000400164.3_Silent_p.I1445I|CACNA1I_ENST00000401624.1_Silent_p.I1480I|CACNA1I_ENST00000407673.1_Silent_p.I1445I|CACNA1I_ENST00000404898.1_Silent_p.I1445I|CACNA1I_ENST00000402142.3_Silent_p.I1480I			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1480					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	p.I1445I(2)|p.I1480I(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GGCTGCTCATCCACTCCATGT	0.592000													32	32					5.09552e-08	6.23355e-08	0.010818	1	0
DUS4L	11062	broad.mit.edu	37	7	107216865	107216865	+	Silent	SNP	A	A	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr7:107216865A>T	ENST00000265720.3	+	7	896	c.534A>T	c.(532-534)acA>acT	p.T178T	DUS4L_ENST00000402620.1_Silent_p.T57T	NM_001270419.1|NM_181581.2	NP_001257348.1|NP_853559.1	O95620	DUS4L_HUMAN	dihydrouridine synthase 4-like (S. cerevisiae)	178			T -> A (in dbSNP:rs6956789).		tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	p.T178T(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						CTGAAGCAACAGGAGTTTCAT	0.348000													45	45					0	0	0.014410	0	0
DNAJC10	54431	broad.mit.edu	37	2	183601114	183601114	+	Splice_Site	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr2:183601114G>T	ENST00000264065.6	+	11	1402		c.e11+1		DNAJC10_ENST00000537515.1_Splice_Site	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10						apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding	p.?(1)		breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CAGTATTTTGGTATGAATCAC	0.289000													13	37					3.27435e-08	4.01372e-08	0.002450	1	0
ZW10	9183	broad.mit.edu	37	11	113608356	113608356	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr11:113608356C>A	ENST00000200135.3	-	14	2098	c.1954G>T	c.(1954-1956)Gct>Tct	p.A652S		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	652					cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding	p.K651_A652>NS(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		GTCCCCATAGCCTTGCAATAT	0.433000													88	165					5.52034e-35	1.01095e-34	0.014410	1	0
RNF38	152006	broad.mit.edu	37	9	36356463	36356463	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr9:36356463T>A	ENST00000357058.3	-	6	1103	c.497A>T	c.(496-498)cAg>cTg	p.Q166L	RNF38_ENST00000377885.2_Missense_Mutation_p.Q166L|RNF38_ENST00000491349.1_5'UTR|RNF38_ENST00000353739.4_Missense_Mutation_p.Q199L|RNF38_ENST00000259605.6_Missense_Mutation_p.Q249L|RNF38_ENST00000377877.4_Missense_Mutation_p.Q173L|RNF38_ENST00000350199.4_Missense_Mutation_p.Q166L	NM_194328.2	NP_919309.1	Q9H0F5	RNF38_HUMAN	ring finger protein 38	249							zinc ion binding	p.Q249L(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			TGAACATGCCTGAAGCATCTG	0.368000													61	46					0	0	0.014410	0	0
XRCC1	7515	broad.mit.edu	37	19	44047554	44047554	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr19:44047554G>A	ENST00000262887.5	-	17	2439	c.1892C>T	c.(1891-1893)cCg>cTg	p.P631L	XRCC1_ENST00000543982.1_Missense_Mutation_p.P600L			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	631					base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding	p.P631L(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				TCAGGCTTGCGGCACCACCCC	0.488000								Other BER factors					11	57					0	0	0.010729	0	0
MUC16	94025	broad.mit.edu	37	19	9086026	9086026	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr19:9086026C>G	ENST00000397910.4	-	1	5992	c.5789G>C	c.(5788-5790)aGg>aCg	p.R1930T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1930	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.R1930T(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTTATGGCCCTGTTTCCAGG	0.478000													19	23					0	0	0.012319	0	0
STRA8	346673	broad.mit.edu	37	7	134925270	134925270	+	Splice_Site	SNP	G	G	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr7:134925270G>A	ENST00000275764.3	+	2	60		c.e2-1			NM_182489.1	NP_872295.1	Q7Z7C7	STRA8_HUMAN	stimulated by retinoic acid 8						DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus		p.?(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						TTACATTACAGCTTATAATGG	0.453000													26	34					0	0	0.012213	0	0
ANK2	287	broad.mit.edu	37	4	114257162	114257162	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr4:114257162G>C	ENST00000357077.4	+	30	3593	c.3540G>C	c.(3538-3540)caG>caC	p.Q1180H	ANK2_ENST00000264366.6_Missense_Mutation_p.Q1147H|ANK2_ENST00000506722.1_Missense_Mutation_p.Q1171H|ANK2_ENST00000509550.1_Missense_Mutation_p.Q356H|ANK2_ENST00000394537.3_Missense_Mutation_p.Q1180H	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1147					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.Q1180H(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCCAGGTGCAGGCCGTCTTCC	0.537000													7	116					0	0	0.003080	0	0
UGT2B17	7367	broad.mit.edu	37	4	69417590	69417590	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr4:69417590C>A	ENST00000317746.2	-	4	1087	c.1045G>T	c.(1045-1047)Ggt>Tgt	p.G349C		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	349					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.G349C(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						GTATTGGAACCTAAAGTATTT	0.353000													22	21					2.12542e-12	2.95035e-12	0.006320	1	0
NLRC3	197358	broad.mit.edu	37	16	3613765	3613765	+	RNA	SNP	A	A	G			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr16:3613765A>G	ENST00000301749.7	-	0	1578				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	p.H438H(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGCGGCCACCATGGGCCACCT	0.592000													7	19					0	0	0.001984	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599805	136599805	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr6:136599805C>A	ENST00000531224.1	-	4	466	c.214G>T	c.(214-216)Ggg>Tgg	p.G72W	BCLAF1_ENST00000353331.4_Missense_Mutation_p.G70W|BCLAF1_ENST00000392348.2_Missense_Mutation_p.G70W|BCLAF1_ENST00000527759.1_Missense_Mutation_p.G70W|BCLAF1_ENST00000527536.1_Missense_Mutation_p.G72W|BCLAF1_ENST00000530767.1_Missense_Mutation_p.G72W	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	72					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.G72W(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CCTCTGTACCCATAAGGTCGT	0.438000													21	130					1.74807e-11	2.37238e-11	0.010818	1	0
LRP1B	53353	broad.mit.edu	37	2	141819767	141819767	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr2:141819767C>A	ENST00000389484.3	-	8	2060	c.1089G>T	c.(1087-1089)agG>agT	p.R363S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	363					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.R363S(1)|p.R363R(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AATCAATTATCCTTGTTCGGT	0.413000										TSP Lung(27;0.18)			48	100					1.46357e-32	2.66423e-32	0.014410	1	0
OR8D1	283159	broad.mit.edu	37	11	124180032	124180032	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr11:124180032T>C	ENST00000357821.2	-	1	701	c.631A>G	c.(631-633)Acc>Gcc	p.T211A		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T211A(1)		kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		ACAGCTAGGGTGGGCACCAAG	0.507000													4	46					0	0	0.000602	0	0
CEP192	55125	broad.mit.edu	37	18	13073170	13073170	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr18:13073170G>T	ENST00000506447.1	+	30	5682	c.5602G>T	c.(5602-5604)Ggc>Tgc	p.G1868C	CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Missense_Mutation_p.G1393C|CEP192_ENST00000325971.8_Missense_Mutation_p.G1272C	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1463								p.G1272F(1)|p.G1868F(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ATCACAACCAGGCATTAAGTT	0.348000													66	177					3.37205e-40	6.38694e-40	0.014410	1	0
RYR2	6262	broad.mit.edu	37	1	237754044	237754044	+	Silent	SNP	G	G	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:237754044G>A	ENST00000366574.2	+	31	4229	c.3912G>A	c.(3910-3912)ctG>ctA	p.L1304L	RYR2_ENST00000542537.1_Silent_p.L1288L|RYR2_ENST00000360064.6_Silent_p.L1302L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1304	4 X approximate repeats.				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	p.L1302L(1)		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)			TTTATCGCCTGAGCATGCCGA	0.512000													5	307					0	0	0.000602	0	0
EYS	346007	broad.mit.edu	37	6	66053950	66053950	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr6:66053950G>A	ENST00000503581.1	-	10	2117	c.1580C>T	c.(1579-1581)cCa>cTa	p.P527L	EYS_ENST00000370616.2_Missense_Mutation_p.P527L|EYS_ENST00000342421.5_Missense_Mutation_p.P527L|EYS_ENST00000370621.3_Missense_Mutation_p.P527L|EYS_ENST00000393380.2_Missense_Mutation_p.P527L|EYS_ENST00000370618.3_Missense_Mutation_p.P527L	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	527					response to stimulus|visual perception	extracellular region	calcium ion binding	p.P527L(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GCCTTCATGTGGGAACCAACA	0.348000													20	95					0	0	0.012319	0	0
OR4C46	119749	broad.mit.edu	37	11	51515839	51515839	+	Silent	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr11:51515839C>A	ENST00000328188.1	+	1	558	c.558C>A	c.(556-558)gcC>gcA	p.A186A		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A186A(1)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TCAACCTCGCCTGCACTGACA	0.453000													51	89					6.83704e-37	1.27513e-36	0.014410	1	0
PCDHB7	56129	broad.mit.edu	37	5	140553859	140553859	+	Silent	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr5:140553859C>A	ENST00000231137.3	+	1	1617	c.1443C>A	c.(1441-1443)ggC>ggA	p.G481G		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		481	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G481G(1)		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)			GAGACTCGGGCACCAACGCCC	0.647000													36	35					2.32173e-10	3.04227e-10	0.004878	1	0
CNGB3	54714	broad.mit.edu	37	8	87666264	87666264	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr8:87666264G>T	ENST00000320005.5	-	7	926	c.879C>A	c.(877-879)caC>caA	p.H293Q		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	293					signal transduction|visual perception	integral to membrane	cGMP binding	p.H293Q(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						AAGTCCTGTAGTGTTTCCTTA	0.284000													19	67					2.37509e-13	3.39778e-13	0.010504	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33683200	33683200	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr5:33683200C>A	ENST00000504830.1	-	5	1173	c.838G>T	c.(838-840)Ggg>Tgg	p.G280W	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.G280W	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	280	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G280R(1)|p.G280W(1)		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						TGGAACAACCCAGTGACCTAG	0.373000										HNSCC(64;0.19)			34	88					3.33393e-15	4.99269e-15	0.004878	1	0
GRIN2A	2903	broad.mit.edu	37	16	9923360	9923360	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr16:9923360C>A	ENST00000396573.2	-	10	2236	c.1927G>T	c.(1927-1929)Gct>Tct	p.A643S	GRIN2A_ENST00000562109.1_Missense_Mutation_p.A643S|GRIN2A_ENST00000535259.1_Missense_Mutation_p.A486S|GRIN2A_ENST00000330684.3_Missense_Mutation_p.A643S|GRIN2A_ENST00000404927.2_Missense_Mutation_p.A643S|GRIN2A_ENST00000396575.2_Missense_Mutation_p.A643S	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	643					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.A643S(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTGTAGCTAGCCAGGAATATG	0.507000													28	43					3.99451e-17	6.13298e-17	0.009535	1	0
DNMBP	23268	broad.mit.edu	37	10	101716089	101716089	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr10:101716089G>A	ENST00000342239.3	-	4	1233	c.1142C>T	c.(1141-1143)gCa>gTa	p.A381V	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000324109.4_Missense_Mutation_p.A381V			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	381					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	p.A381V(1)		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)		GGGCCCTCCTGCGGTGTCCTC	0.537000													41	44					0	0	0.014410	0	0
UNC45B	146862	broad.mit.edu	37	17	33481607	33481607	+	Silent	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr17:33481607C>A	ENST00000268876.5	+	6	583	c.486C>A	c.(484-486)ctC>ctA	p.L162L	UNC45B_ENST00000433649.1_Silent_p.L162L|UNC45B_ENST00000591048.1_Silent_p.L162L|UNC45B_ENST00000394570.2_Silent_p.L162L|UNC45B_ENST00000378449.1_Silent_p.L162L	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	162					cell differentiation|muscle organ development	cytosol	binding	p.L162L(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CCAACAATCTCATTGTCCTAG	0.552000													17	54					2.4624e-09	3.15187e-09	0.008871	1	0
MAP3K7	6885	broad.mit.edu	37	6	91257068	91257068	+	Silent	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr6:91257068C>A	ENST00000369329.3	-	11	1280	c.1119G>T	c.(1117-1119)ggG>ggT	p.G373G	MAP3K7_ENST00000369327.3_Silent_p.G373G|MAP3K7_ENST00000369332.3_Silent_p.G373G|MAP3K7_ENST00000369320.1_Silent_p.G54G|MAP3K7_ENST00000369325.3_Silent_p.G373G	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	373					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	p.G373G(2)		endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		CCACACTGCTCCCACGGGAGG	0.468000													73	188					3.78398e-24	6.48074e-24	0.014410	1	0
CPED1	79974	broad.mit.edu	37	7	120767204	120767204	+	Nonsense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr7:120767204G>T	ENST00000310396.5	+	10	1662	c.1195G>T	c.(1195-1197)Gaa>Taa	p.E399*	CPED1_ENST00000423795.1_Nonsense_Mutation_p.E179*|CPED1_ENST00000450913.2_Nonsense_Mutation_p.E399*	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1									p.E399*(1)									CCAAAATACAGAAGAATTCCT	0.294000													11	36					0.000673444	0.000732476	0.008291	1	0
PROKR2	128674	broad.mit.edu	37	20	5283203	5283203	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr20:5283203G>T	ENST00000546004.1	-	3	884	c.638C>A	c.(637-639)cCt>cAt	p.P213H	PROKR2_ENST00000217270.3_Missense_Mutation_p.P213H			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	213						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.P213H(1)		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						CTGATCCACAGGCCAGATCTG	0.512000										HNSCC(71;0.22)			64	111					2.05175e-36	3.81488e-36	0.014410	1	0
CHDC2	286464	broad.mit.edu	37	X	36091257	36091257	+	Splice_Site	SNP	A	A	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chrX:36091257A>T	ENST00000378660.1	+	4	380	c.190_splice	c.e4-1	p.G64_splice	CHDC2_ENST00000313548.4_Splice_Site_p.G64_splice					calponin homology domain containing 2									p.G64G(1)									TAATTTTAGGAGTGGAAGTAC	0.343000													24	34					0	0	0.003954	0	0
VENTX	27287	broad.mit.edu	37	10	135053658	135053658	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr10:135053658G>T	ENST00000325980.9	+	3	1136	c.625G>T	c.(625-627)Gca>Tca	p.A209S		NM_014468.2	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	209					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A209S(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		CTGCCAAGTGGCACAAGAGGC	0.701000													12	7					2.68362e-12	3.69987e-12	0.013537	1	0
GNAS	2778	broad.mit.edu	37	20	57430234	57430234	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr20:57430234G>T	ENST00000371100.4	+	1	2466	c.1914G>T	c.(1912-1914)aaG>aaT	p.K638N	GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000306120.3_Missense_Mutation_p.R575M|GNAS_ENST00000371102.4_Missense_Mutation_p.K638N|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.K638N	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.K638N(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AGGTCAAGAAGGTACCCCTGG	0.587000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			5	25					0.000602214	0.000657354	0.000602	1	0
CXorf67	340602	broad.mit.edu	37	X	51150497	51150497	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chrX:51150497G>T	ENST00000342995.2	+	1	731	c.629G>T	c.(628-630)aGg>aTg	p.R210M						chromosome X open reading frame 67									p.R210M(1)		breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						TCTGAGGCAAGGCCTGCTACC	0.657000													5	4					5.9392e-07	7.12235e-07	0.001168	1	0
SEC63	11231	broad.mit.edu	37	6	108214748	108214748	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr6:108214748G>C	ENST00000369002.4	-	16	1791	c.1612C>G	c.(1612-1614)Cct>Gct	p.P538A		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	538	SEC63 1.				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	p.P538A(1)		endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		AATAGCACAGGTGTAGGTTTT	0.338000													45	197					0	0	0.011902	0	0
XPO6	23214	broad.mit.edu	37	16	28137079	28137079	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr16:28137079C>A	ENST00000304658.5	-	13	2197	c.1697G>T	c.(1696-1698)cGc>cTc	p.R566L	XPO6_ENST00000565698.1_Missense_Mutation_p.R552L	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	566					protein export from nucleus		protein binding|protein transporter activity	p.R566L(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						CTCGGCCAGGCGGCCCACGGC	0.587000													80	141					3.30373e-36	6.12399e-36	0.014410	1	0
STAT2	6773	broad.mit.edu	37	12	56750038	56750038	+	Nonsense_Mutation	SNP	T	T	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr12:56750038T>A	ENST00000314128.4	-	3	186	c.163A>T	c.(163-165)Aag>Tag	p.K55*	STAT2_ENST00000418572.2_Nonsense_Mutation_p.K55*|STAT2_ENST00000557235.1_Nonsense_Mutation_p.K55*			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	55					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.K55*(1)		NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						ATGGTAGCCTTGGAATCATCA	0.512000													11	47					0	0	0.001855	0	0
WDFY2	115825	broad.mit.edu	37	13	52158888	52158888	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr13:52158888G>T	ENST00000298125.5	+	1	245	c.65G>T	c.(64-66)gGg>gTg	p.G22V		NM_052950.3	NP_443182.1	Q96P53	WDFY2_HUMAN	WD repeat and FYVE domain containing 2	22							metal ion binding	p.G22V(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)		CGGATGGAGGGGTCCCAGGAG	0.677000													17	25					2.44723e-14	3.56815e-14	0.004656	1	0
TRDN	10345	broad.mit.edu	37	6	123673692	123673692	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr6:123673692A>T	ENST00000334268.4	-	21	1678	c.1361T>A	c.(1360-1362)gTg>gAg	p.V454E	TRDN_ENST00000398178.3_Missense_Mutation_p.V454E			Q13061	TRDN_HUMAN	triadin	454					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	p.V454E(1)		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)		ACCTTGCTCCACTGTCTTGGT	0.398000													8	49					0	0	0.008291	0	0
IFFO1	25900	broad.mit.edu	37	12	6660140	6660140	+	Translation_Start_Site	SNP	G	G	C			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr12:6660140G>C	ENST00000436152.2	-	0	439				IFFO1_ENST00000356896.4_Missense_Mutation_p.I267M|IFFO1_ENST00000336604.4_Missense_Mutation_p.I267M|IFFO1_ENST00000396840.2_Missense_Mutation_p.I267M|IFFO1_ENST00000465801.1_De_novo_Start_InFrame			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1							intermediate filament		p.I267M(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						CTTGCAGCTGGATCCGCACCG	0.622000													4	101					0	0	0.000602	0	0
KIAA1958	158405	broad.mit.edu	37	9	115421828	115421828	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr9:115421828G>A	ENST00000337530.6	+	4	1926	c.1630G>A	c.(1630-1632)Gca>Aca	p.A544T	KIAA1958_ENST00000536272.1_Missense_Mutation_p.A572T	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	544								p.A544T(1)		endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						GATGTGGCAGGCAGGGTGTCT	0.582000													5	8					0	0	0.001168	0	0
SLC25A6	293	broad.mit.edu	37	X	1508155	1508155	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chrX:1508155C>A	ENST00000381401.5	-	2	1291	c.577G>T	c.(577-579)Ggc>Tgc	p.G193C	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	193					active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding	p.G193C(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	TCGTACACGCCGAAGTAGGCC	0.627000													16	38					1.87028e-06	2.191e-06	0.012319	1	0
PCDHGA4	56111	broad.mit.edu	37	5	140736053	140736053	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr5:140736053C>A	ENST00000571252.1	+	1	1286	c.1286C>A	c.(1285-1287)aCt>aAt	p.T429N	PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCAGGGAACTCCTCCACTG	0.438000													19	22					8.34094e-07	9.86632e-07	0.008871	1	0
FAM65A	79567	broad.mit.edu	37	16	67574538	67574538	+	Silent	SNP	T	T	C			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr16:67574538T>C	ENST00000540839.3	+	11	1012	c.792T>C	c.(790-792)agT>agC	p.S264S	FAM65A_ENST00000422602.2_Silent_p.S264S|FAM65A_ENST00000428437.2_Silent_p.S258S|FAM65A_ENST00000379312.3_Silent_p.S248S|FAM65A_ENST00000566522.1_3'UTR|FAM65A_ENST00000042381.4_Silent_p.S244S			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	248						cytoplasm	binding	p.S244S(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		TTGAGGGTAGTGGAAAGCAGG	0.542000													70	110					0	0	0.014410	0	0
MT1E	4493	broad.mit.edu	37	16	56660696	56660696	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr16:56660696G>T	ENST00000330439.6	+	2	401	c.347G>T	c.(346-348)tGg>tTg	p.W116L	MT1E_ENST00000306061.6_Intron|MT1E_ENST00000568293.1_Intron			P04732	MT1E_HUMAN	metallothionein 1E	0						cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding										AGCATCCTCTGGGTCTGGGTT	0.562000													21	40					7.45023e-12	1.02251e-11	0.010504	1	0
RET	5979	broad.mit.edu	37	10	43609932	43609932	+	Silent	SNP	A	A	G			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr10:43609932A>G	ENST00000355710.3	+	11	2116	c.1884A>G	c.(1882-1884)ccA>ccG	p.P628P	RET_ENST00000340058.5_Silent_p.P628P	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	628					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	p.P628P(1)|p.D627_L633>E(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CCACAGATCCACTGTGCGACG	0.632000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				14	42					0	0	0.007413	0	0
LAMB4	22798	broad.mit.edu	37	7	107696157	107696157	+	Silent	SNP	A	A	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr7:107696157A>T	ENST00000388781.3	-	25	3758	c.3675T>A	c.(3673-3675)tcT>tcA	p.S1225S	LAMB4_ENST00000388780.3_Silent_p.S1225S|LAMB4_ENST00000205386.4_Silent_p.S1225S	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1225	Domain II.				cell adhesion	basement membrane		p.S1225S(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TTTCTATTTCAGACACGTTCC	0.418000													21	95					0	0	0.008871	0	0
KDR	3791	broad.mit.edu	37	4	55979578	55979578	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr4:55979578C>A	ENST00000263923.4	-	7	1164	c.869G>T	c.(868-870)aGc>aTc	p.S290I		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	290	Ig-like C2-type 3.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.S290I(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AGTTAAGGTGCTCAAAAATTT	0.433000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			26	125					1.39806e-14	2.04824e-14	0.008361	1	0
MGA	23269	broad.mit.edu	37	15	42032402	42032402	+	Splice_Site	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr15:42032402G>T	ENST00000219905.7	+	14	4766		c.e14+1		MGA_ENST00000570161.1_Splice_Site|MGA_ENST00000389936.4_Splice_Site|MGA_ENST00000566586.1_Splice_Site|MGA_ENST00000545763.1_Splice_Site	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein							MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.?(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CGGCCAATTGGTAAGTTGGGG	0.458000													17	22					1.01871e-10	1.34647e-10	0.008871	1	0
SSTR5	6755	broad.mit.edu	37	16	1129274	1129274	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr16:1129274G>T	ENST00000293897.4	+	1	494	c.406G>T	c.(406-408)Gac>Tac	p.D136Y	SSTR5_ENST00000562758.1_Missense_Mutation_p.D136Y|SSTR5_ENST00000397547.2_Missense_Mutation_p.D136Y	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	136					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	p.D136Y(1)		endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	CATGAGCGTGGACCGCTACCT	0.692000													16	45					4.35082e-09	5.52254e-09	0.010504	1	0
TRPM4	54795	broad.mit.edu	37	19	49685943	49685943	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr19:49685943A>T	ENST00000252826.5	+	11	1498	c.1372A>T	c.(1372-1374)Atg>Ttg	p.M458L	TRPM4_ENST00000601347.1_3'UTR|TRPM4_ENST00000355712.5_Missense_Mutation_p.M104L|TRPM4_ENST00000427978.2_Missense_Mutation_p.M458L	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	458					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	p.M458L(1)		breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CCTGACCCCGATGCGCCTGGC	0.647000													18	57					0	0	0.008871	0	0
DST	667	broad.mit.edu	37	6	56425222	56425222	+	Splice_Site	SNP	C	C	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr6:56425222C>T	ENST00000370754.5	-	58	14217		c.e58-1		DST_ENST00000312431.6_Splice_Site|DST_ENST00000244364.6_Splice_Site|DST_ENST00000421834.2_Splice_Site|DST_ENST00000361203.3_Splice_Site|DST_ENST00000370769.4_Splice_Site|DST_ENST00000446842.2_Splice_Site|DST_ENST00000370788.2_Splice_Site			Q03001	DYST_HUMAN	dystonin						cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.?(2)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCTCAAACGACTAACAAGGGA	0.353000													6	8					0	0	0.001984	0	0
LINGO2	158038	broad.mit.edu	37	9	27948880	27948880	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr9:27948880C>A	ENST00000379992.2	-	6	2239	c.1790G>T	c.(1789-1791)gGa>gTa	p.G597V	LINGO2_ENST00000308675.3_Missense_Mutation_p.G597V	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	597						integral to membrane		p.G597L(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CCTCCTGGGTCCAGCTACCTC	0.463000													54	49					8.99859e-20	1.46287e-19	0.014410	1	0
RUNX1T1	862	broad.mit.edu	37	8	93004034	93004034	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr8:93004034C>A	ENST00000523629.1	-	7	1278	c.824G>T	c.(823-825)cGg>cTg	p.R275L	RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R248L|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R248L|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R238L|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R275L|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R286L|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R238L|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R238L	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	275					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R275L(1)|p.R238L(1)|p.R286L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TGGACTGTACCGCTGGCCTGG	0.512000													11	68					9.31168e-06	1.06419e-05	0.001855	1	0
ELTD1	64123	broad.mit.edu	37	1	79403492	79403492	+	Splice_Site	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:79403492C>A	ENST00000370742.3	-	6	823	c.760_splice	c.e6+1	p.A254_splice		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	254					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.A254S(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TGTTTCTTACCTATATCCGTT	0.368000													109	195					8.43681e-56	1.62844e-55	0.014410	1	0
DSEL	92126	broad.mit.edu	37	18	65179982	65179982	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr18:65179982C>G	ENST00000310045.7	-	2	3367	c.1894G>C	c.(1894-1896)Ggt>Cgt	p.G632R	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	622						integral to membrane	isomerase activity|sulfotransferase activity	p.G632R(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				ATCATGGCACCATTATACCTA	0.378000													23	66					0	0	0.003330	0	0
CPXM1	56265	broad.mit.edu	37	20	2775946	2775946	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr20:2775946C>G	ENST00000380605.2	-	12	1901	c.1837G>C	c.(1837-1839)Gcc>Ccc	p.A613P		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	613					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	p.A613P(1)		endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GTGAGGAGGGCGTCTTTGTTG	0.572000													32	30					0	0	0.012213	0	0
TMEM225	338661	broad.mit.edu	37	11	123754037	123754037	+	Nonsense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr11:123754037G>T	ENST00000375026.2	-	4	702	c.486C>A	c.(484-486)tgC>tgA	p.C162*		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	162						integral to membrane		p.C162*(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						TAGACAACTTGCACTCTAGGA	0.428000													35	69					5.59293e-11	7.44092e-11	0.006999	1	0
OR10A2	341276	broad.mit.edu	37	11	6891376	6891376	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr11:6891376C>A	ENST00000307322.4	+	1	453	c.391C>A	c.(391-393)Ctg>Atg	p.L131M		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L131M(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TCGTGCCAAACTGGCTGCTGC	0.527000													80	122					6.65942e-36	1.23068e-35	0.014410	1	0
COQ10B	80219	broad.mit.edu	37	2	198327273	198327273	+	Nonsense_Mutation	SNP	C	C	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr2:198327273C>T	ENST00000263960.2	+	3	403	c.265C>T	c.(265-267)Cag>Tag	p.Q89*	COQ10B_ENST00000409398.1_Nonsense_Mutation_p.Q39*|COQ10B_ENST00000409010.1_Nonsense_Mutation_p.Q61*|COQ10B_ENST00000545340.1_Nonsense_Mutation_p.Q46*	NM_025147.3	NP_079423.1	Q9H8M1	CQ10B_HUMAN	coenzyme Q10 homolog B (S. cerevisiae)	89						mitochondrial inner membrane		p.Q89*(1)		endometrium(1)|large_intestine(2)|lung(3)	6			Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATATTCAATGCAGGAAATGTA	0.279000													29	54					0	0	0.009535	0	0
PSG1	5669	broad.mit.edu	37	19	43383729	43383729	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr19:43383729C>A	ENST00000244296.2	-	1	142	c.5G>T	c.(4-6)gGa>gTa	p.G2V	PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000595356.1_Missense_Mutation_p.G2V|PSG1_ENST00000595124.1_Missense_Mutation_p.G2V|PSG1_ENST00000403380.3_Missense_Mutation_p.G2V|PSG1_ENST00000436291.2_Missense_Mutation_p.G2V|PSG1_ENST00000312439.6_Missense_Mutation_p.G2V	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1									p.G2V(2)		breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				TGAGAGGGTTCCCATGGTCTC	0.567000													67	86					1.21826e-31	2.21105e-31	0.014410	1	0
SPOPL	339745	broad.mit.edu	37	2	139316626	139316626	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr2:139316626G>C	ENST00000280098.4	+	6	894	c.515G>C	c.(514-516)gGa>gCa	p.G172A		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	172						nucleus		p.G172A(1)		breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		AACATATCAGGACATACTAAT	0.353000													18	116					0	0	0.004990	0	0
POLD1	5424	broad.mit.edu	37	19	50905995	50905995	+	Nonsense_Mutation	SNP	A	A	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr19:50905995A>T	ENST00000440232.2	+	8	1020	c.967A>T	c.(967-969)Aaa>Taa	p.K323*	POLD1_ENST00000599857.1_Nonsense_Mutation_p.K323*|POLD1_ENST00000595904.1_Nonsense_Mutation_p.K323*	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	323					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	p.K323*(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CGCCGGCCGCAAAGGTCTGTC	0.657000								DNA polymerases (catalytic subunits)					5	14					0	0	0.001168	0	0
STX12	23673	broad.mit.edu	37	1	28138717	28138717	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:28138717G>T	ENST00000373943.4	+	6	639	c.514G>T	c.(514-516)Gcc>Tcc	p.A172S		NM_177424.2	NP_803173.1	Q86Y82	STX12_HUMAN	syntaxin 12	172					cholesterol efflux|intracellular protein transport|protein stabilization|vesicle-mediated transport	Golgi apparatus|integral to membrane|membrane raft|phagocytic vesicle	SNAP receptor activity	p.A172S(1)		breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)		GGATGAGGTGGCCATCACTGA	0.483000													3	5					0.004672	0.00498347	0.004672	1	0
CDH2	1000	broad.mit.edu	37	18	25532157	25532157	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr18:25532157A>G	ENST00000269141.3	-	16	3104	c.2681T>C	c.(2680-2682)tTc>tCc	p.F894S	CDH2_ENST00000399380.3_Missense_Mutation_p.F863S	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	894					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	p.F894S(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AAGTTTCTTGAACCGTGGCCC	0.473000													77	139					0	0	0.014410	0	0
RYR2	6262	broad.mit.edu	37	1	237778129	237778129	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:237778129C>A	ENST00000366574.2	+	37	6018	c.5701C>A	c.(5701-5703)Cca>Aca	p.P1901T	RYR2_ENST00000542537.1_Missense_Mutation_p.P1885T|RYR2_ENST00000360064.6_Missense_Mutation_p.P1899T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1901	4 X approximate repeats.				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	p.P1899T(1)		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)			ACTGCCAGAGCCAGTTAAATT	0.473000													18	56					1.96292e-10	2.58324e-10	0.010504	1	0
HMCN1	83872	broad.mit.edu	37	1	186083241	186083241	+	Silent	SNP	T	T	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:186083241T>A	ENST00000271588.4	+	73	11491	c.11262T>A	c.(11260-11262)gcT>gcA	p.A3754A	HMCN1_ENST00000367492.2_Silent_p.A3754A	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3754	Ig-like C2-type 36.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.G3755R(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTGTTCTAGCTGGGAATCATG	0.363000													34	135					0	0	0.003271	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13339273	13339273	+	RNA	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr4:13339273C>A	ENST00000602906.1	+	0	862																				kidney(3)|lung(1)	4						TGAACATCTCCTGAGAAATGC	0.458000													3	35					0.004672	0.00498347	0.004672	1	0
ETS1	2113	broad.mit.edu	37	11	128360370	128360370	+	Nonsense_Mutation	SNP	G	G	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr11:128360370G>A	ENST00000392668.3	-	4	384	c.316C>T	c.(316-318)Cga>Tga	p.R106*	ETS1_ENST00000345075.4_Nonsense_Mutation_p.R62*|ETS1_ENST00000531611.1_Nonsense_Mutation_p.R62*|ETS1_ENST00000319397.5_Nonsense_Mutation_p.R62*|ETS1_ENST00000526145.1_Nonsense_Mutation_p.R62*|ETS1_ENST00000535549.1_Intron	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	62	PNT.				cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.R106*(1)|p.R62*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		ATCCCCAGTCGTTGCTGTTCT	0.438000													5	178					0	0	0.001168	0	0
BAIAP3	8938	broad.mit.edu	37	16	1398189	1398189	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr16:1398189G>T	ENST00000324385.5	+	33	3505	c.3347G>T	c.(3346-3348)gGg>gTg	p.G1116V	BAIAP3_ENST00000397489.1_Missense_Mutation_p.G1098V|BAIAP3_ENST00000397488.2_Missense_Mutation_p.G1098V|BAIAP3_ENST00000562208.1_Missense_Mutation_p.G1058V|BAIAP3_ENST00000426824.3_Missense_Mutation_p.G1081V|BAIAP3_ENST00000421665.2_Missense_Mutation_p.G1045V|BAIAP3_ENST00000568887.1_Missense_Mutation_p.G1053V	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	1116	C2 2.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	p.G1116V(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				GACTTCGCTGGGGAGGCGGCC	0.721000													12	25					1.02788e-11	1.40124e-11	0.004990	1	0
FAM60A	58516	broad.mit.edu	37	12	31435745	31435745	+	Silent	SNP	T	T	C			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr12:31435745T>C	ENST00000337682.4	-	6	935	c.567A>G	c.(565-567)acA>acG	p.T189T	FAM60A_ENST00000395766.1_Silent_p.T41T|FAM60A_ENST00000542983.1_Silent_p.T41T|FAM60A_ENST00000539409.1_Silent_p.T41T|FAM60A_ENST00000454658.2_Silent_p.T189T	NM_001135812.1	NP_001129284.1	Q9NP50	FA60A_HUMAN	family with sequence similarity 60, member A	189								p.T189T(1)		large_intestine(1)|lung(2)	3	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)					TGAAGAGATGTGTGTCAATGA	0.463000													16	67					0	0	0.010504	0	0
NKX2-2	4821	broad.mit.edu	37	20	21494266	21494266	+	Silent	SNP	G	G	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr20:21494266G>A	ENST00000377142.4	-	1	398	c.42C>T	c.(40-42)gaC>gaT	p.D14D		NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	14					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity	p.D14D(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GGTCTAAGATGTCCTTGACCG	0.577000													20	83					0	0	0.003954	0	0
ITM2A	9452	broad.mit.edu	37	X	78616643	78616643	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chrX:78616643C>A	ENST00000434584.2	-	5	939	c.603G>T	c.(601-603)tgG>tgT	p.W201C	ITM2A_ENST00000373298.2_Missense_Mutation_p.W245C|ITM2A_ENST00000469541.1_5'UTR	NM_001171581.1	NP_001165052.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	245	BRICHOS.					integral to membrane	protein binding	p.W245C(1)		breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						GTCTAATCTTCCAGCATTTAT	0.363000													24	20					2.41591e-17	3.74428e-17	0.004656	1	0
CYP26B1	56603	broad.mit.edu	37	2	72361919	72361919	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr2:72361919C>T	ENST00000001146.2	-	4	1035	c.832G>A	c.(832-834)Ggg>Agg	p.G278R	CYP26B1_ENST00000412253.1_Missense_Mutation_p.G87R|CYP26B1_ENST00000546307.1_Missense_Mutation_p.G203R	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	278					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	p.G278R(1)		breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						ATCTCCTTCCCGTGCTCCTTG	0.627000													16	35					0	0	0.003163	0	0
CACNA1E	777	broad.mit.edu	37	1	181620564	181620564	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:181620564G>C	ENST00000526775.1	+	7	1207	c.1042G>C	c.(1042-1044)Gga>Cga	p.G348R	CACNA1E_ENST00000358338.5_Missense_Mutation_p.G299R|CACNA1E_ENST00000367573.2_Missense_Mutation_p.G348R|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G348R|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G299R|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G348R	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	348					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.G348R(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCTAGTCCTGGGAGTGCTTTC	0.453000													27	127					0	0	0.009535	0	0
CYP2E1	1571	broad.mit.edu	37	10	135345697	135345697	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr10:135345697G>T	ENST00000463117.2	+	6	829	c.557G>T	c.(556-558)cGc>cTc	p.R186L	CYP2E1_ENST00000252945.3_Missense_Mutation_p.R186L|SPRN_ENST00000541506.1_Intron			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	186					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding	p.R186L(1)		NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	ATCCTCTTCCGCAAGCATTTT	0.517000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				18	72					5.45024e-15	8.08231e-15	0.003330	1	0
ZNF667	63934	broad.mit.edu	37	19	56973748	56973748	+	Nonsense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr19:56973748C>A	ENST00000342634.3	-	3	270	c.271G>T	c.(271-273)Gag>Tag	p.E91*	ZNF667_ENST00000504904.3_5'UTR|ZNF667_ENST00000591790.1_5'UTR|ZNF667_ENST00000292069.6_5'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		ATCCTTTCCTCCCCCTTTAGG	0.567000													31	158					2.85442e-18	4.54315e-18	0.010818	1	0
SRRM2	23524	broad.mit.edu	37	16	2812488	2812488	+	Silent	SNP	T	T	C			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr16:2812488T>C	ENST00000301740.8	+	11	2508	c.1959T>C	c.(1957-1959)gcT>gcC	p.A653A		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	653	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	p.A653A(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GAACCCCAGCTAGACGTGGCC	0.617000													27	104					0	0	0.007291	0	0
HMCN1	83872	broad.mit.edu	37	1	186083242	186083242	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:186083242G>A	ENST00000271588.4	+	73	11492	c.11263G>A	c.(11263-11265)Ggg>Agg	p.G3755R	HMCN1_ENST00000367492.2_Missense_Mutation_p.G3755R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3755	Ig-like C2-type 36.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.G3755R(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGTTCTAGCTGGGAATCATGC	0.358000													35	133					0	0	0.003271	0	0
SERPINB13	5275	broad.mit.edu	37	18	61264493	61264493	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr18:61264493G>A	ENST00000344731.5	+	8	1174	c.1072G>A	c.(1072-1074)Gcc>Acc	p.A358T	SERPINB13_ENST00000269489.5_Missense_Mutation_p.A306T	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	358					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	p.A358T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TGTCACATCCGCCCCAGGTCA	0.512000													4	115					0	0	0.009096	0	0
CROCC	9696	broad.mit.edu	37	1	17266539	17266539	+	Missense_Mutation	SNP	G	G	A	rs138094629		TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:17266539G>A	ENST00000375541.5	+	13	1828	c.1759G>A	c.(1759-1761)Gcc>Acc	p.A587T	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	587					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	p.A587T(1)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CCACGAGGACGCCCAGCGCGA	0.682000													13	10					0	0	0.007413	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43552535	43552535	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr17:43552535T>A	ENST00000430334.3	-	4	987	c.854A>T	c.(853-855)gAg>gTg	p.E285V	PLEKHM1_ENST00000421073.2_Missense_Mutation_p.E196V	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	285					intracellular signal transduction	cytoplasm	metal ion binding	p.E285V(1)		breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CATGGGCTCCTCGCAATGGTC	0.567000													21	54					0	0	0.010504	0	0
ATIC	471	broad.mit.edu	37	2	216197222	216197222	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr2:216197222G>T	ENST00000435675.1	+	7	1194	c.803G>T	c.(802-804)aGc>aTc	p.S268I	ATIC_ENST00000236959.9_Missense_Mutation_p.S269I|ATIC_ENST00000540518.1_Missense_Mutation_p.S210I			P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	269					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity	p.S269I(1)	ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	AAACATGTCAGCCCAGCAGGT	0.418000			T	ALK	ALCL								26	28					2.19358e-23	3.70471e-23	0.005524	1	0
OR2W5	441932	broad.mit.edu	37	1	247654579	247654579	+	RNA	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:247654579C>A	ENST00000522351.1	+	0	210							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V50V(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-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)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TCTTGCTGGTCATGGATGTCA	0.493000													63	63					1.08241e-25	1.88568e-25	0.014410	1	0
FCRL1	115350	broad.mit.edu	37	1	157772420	157772420	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:157772420C>A	ENST00000358292.3	-	4	405	c.354G>T	c.(352-354)caG>caT	p.Q118H	FCRL1_ENST00000491942.1_Missense_Mutation_p.Q118H|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000368176.3_Missense_Mutation_p.Q118H	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	118	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity	p.Q118H(2)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CTCCTGGGGGCTGAGTCTCCA	0.542000													8	23					3.86212e-05	4.32444e-05	0.008291	1	0
P2RY12	64805	broad.mit.edu	37	3	151056021	151056021	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr3:151056021C>A	ENST00000302632.3	-	3	912	c.613G>T	c.(613-615)Gtt>Ttt	p.V205F	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron	NM_022788.4|NM_176876.2	NP_073625.1|NP_795345.1	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y, G-protein coupled, 12	205					platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity	p.V205F(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)	CATACAATAACAATTAAGAAA	0.363000													27	88					9.04412e-07	1.06566e-06	0.004656	1	0
NXPH1	30010	broad.mit.edu	37	7	8791179	8791179	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr7:8791179A>G	ENST00000405863.1	+	3	1507	c.596A>G	c.(595-597)gAa>gGa	p.E199G	NXPH1_ENST00000602349.1_Missense_Mutation_p.E82G|NXPH1_ENST00000497400.1_3'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	199	V (Cys-rich).					extracellular region		p.E199G(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		ATTGAATATGAAAAGGTTGAC	0.433000													14	36					0	0	0.004007	0	0
STARD7	56910	broad.mit.edu	37	2	96853011	96853011	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr2:96853011C>A	ENST00000337288.5	-	7	1255	c.872G>T	c.(871-873)aGt>aTt	p.S291I	STARD7_ENST00000462501.1_5'UTR	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	291	START.					mitochondrion		p.S291I(1)|p.S216I(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						GGGATTGTCACTGTATGTTAG	0.443000													13	47					0.000422831	0.000466573	0.004007	1	0
MIR516A2	574499	broad.mit.edu	37	19	54264393	54264393	+	RNA	SNP	G	G	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr19:54264393G>A	ENST00000384888.1	+	0	7					NR_030221.1																						AAGATCTCAGGTTGTGACCTT	0.403000													40	85					0	0	0.014410	0	0
PODXL	5420	broad.mit.edu	37	7	131195709	131195709	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr7:131195709G>A	ENST00000541194.1	-	2	847	c.590C>T	c.(589-591)aCg>aTg	p.T197M	PODXL_ENST00000322985.9_Missense_Mutation_p.T195M|PODXL_ENST00000378555.3_Missense_Mutation_p.T195M|PODXL_ENST00000537928.1_Missense_Mutation_p.T195M	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	195	Thr-rich.				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		p.T195M(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					CACAGGATGCGTCGAAGTGGG	0.537000													10	140					0	0	0.010729	0	0
IL1RAP	3556	broad.mit.edu	37	3	190345227	190345227	+	Silent	SNP	C	C	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr3:190345227C>T	ENST00000412504.2	+	7	1143	c.891C>T	c.(889-891)acC>acT	p.T297T	IL1RAP_ENST00000447382.1_Silent_p.T297T|IL1RAP_ENST00000443369.2_Silent_p.T297T|IL1RAP_ENST00000317757.3_Silent_p.T297T|IL1RAP_ENST00000072516.3_Silent_p.T297T|IL1RAP_ENST00000434491.1_Silent_p.T156T|IL1RAP_ENST00000422485.1_Silent_p.T297T|IL1RAP_ENST00000439062.1_Silent_p.T297T|IL1RAP_ENST00000422940.1_Silent_p.T297T			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	297	Ig-like C2-type 3.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane		p.T297T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		TTGATGTCACCATTAACGAAA	0.383000													14	98					0	0	0.004007	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119133764	119133764	+	Silent	SNP	T	T	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr3:119133764T>A	ENST00000264245.4	+	12	3520	c.2988T>A	c.(2986-2988)atT>atA	p.I996I		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	996					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	p.I996I(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GGAGAGAGATTACTGGATGGG	0.562000													27	71					0	0	0.003954	0	0
SERPINB8	5271	broad.mit.edu	37	18	61652456	61652456	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr18:61652456G>T	ENST00000397985.2	+	6	953	c.697G>T	c.(697-699)Gat>Tat	p.D233Y	SERPINB8_ENST00000542677.1_Missense_Mutation_p.D51Y|SERPINB8_ENST00000397988.3_Missense_Mutation_p.D233Y|SERPINB8_ENST00000353706.2_Missense_Mutation_p.D233Y|SERPINB8_ENST00000493661.1_3'UTR	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	233					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity	p.D233Y(1)		breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				TCTGCTTCCCGATGACAACAC	0.517000													28	46					3.99451e-17	6.13298e-17	0.009535	1	0
CCDC142	84865	broad.mit.edu	37	2	74709006	74709006	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr2:74709006T>A	ENST00000393965.3	-	1	1355	c.959A>T	c.(958-960)aAt>aTt	p.N320I	CCDC142_ENST00000471713.1_5'UTR|CCDC142_ENST00000290418.4_Missense_Mutation_p.N320I	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	320								p.N320I(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						GGGTCCCAGATTTAGGTCCAG	0.637000													45	91					0	0	0.014410	0	0
TET3	200424	broad.mit.edu	37	2	74320686	74320686	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr2:74320686C>T	ENST00000409262.3	+	7	2755	c.2755C>T	c.(2755-2757)Cgt>Tgt	p.R919C		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	919							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.R919C(1)|p.R196C(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GATTGACTGCCGTCTGGGGCT	0.602000													14	34					0	0	0.004990	0	0
TMEM144	55314	broad.mit.edu	37	4	159158782	159158782	+	Silent	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr4:159158782G>T	ENST00000296529.6	+	9	1189	c.669G>T	c.(667-669)ggG>ggT	p.G223G	TMEM144_ENST00000503404.1_3'UTR	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	223						integral to membrane		p.G223G(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		TATATGCAGGGGCAAGCCAAT	0.323000													10	18					0.00136819	0.00148018	0.013537	1	0
GPRC6A	222545	broad.mit.edu	37	6	117127557	117127557	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr6:117127557G>T	ENST00000310357.3	-	3	1332	c.1311C>A	c.(1309-1311)aaC>aaA	p.N437K	GPRC6A_ENST00000530250.1_Intron|GPRC6A_ENST00000368549.3_Missense_Mutation_p.N437K	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	437					response to amino acid stimulus		G-protein coupled receptor activity	p.N437K(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		AGGCGTTGGGGTTCTGACAGT	0.458000													16	74					1.3612e-06	1.59771e-06	0.003163	1	0
ADCY5	111	broad.mit.edu	37	3	123167195	123167195	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr3:123167195C>G	ENST00000462833.1	-	1	1410	c.198G>C	c.(196-198)caG>caC	p.Q66H		NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	66					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	p.Q66H(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CCAGGCGCTGCTGCTGCTGCG	0.741000													3	2					0	0	0.009096	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204228807	204228807	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:204228807T>A	ENST00000272203.3	-	8	902	c.586A>T	c.(586-588)Aac>Tac	p.N196Y	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.N216Y	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	196	Pro-rich.							p.N196Y(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GGGAGGCTGTTGTGGGGTGGC	0.607000													30	76					0	0	0.009535	0	0
DLD	1738	broad.mit.edu	37	7	107533693	107533693	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr7:107533693G>C	ENST00000205402.5	+	2	369	c.88G>C	c.(88-90)Gtg>Ctg	p.V30L	DLD_ENST00000440410.1_Missense_Mutation_p.V30L|DLD_ENST00000437604.2_Missense_Mutation_p.V30L|DLD_ENST00000537148.1_5'UTR|DLD_ENST00000494441.1_3'UTR	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	30					branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity	p.V30L(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					NADH(DB00157)	ACTTTCTGCAGTGCCTCTGAG	0.358000													22	75					0	0	0.003330	0	0
CMSS1	84319	broad.mit.edu	37	3	99891162	99891162	+	Silent	SNP	C	C	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr3:99891162C>T	ENST00000421999.2	+	8	728	c.582C>T	c.(580-582)gtC>gtT	p.V194V	CMSS1_ENST00000489081.1_Silent_p.V176V	NM_032359.3	NP_115735.2			cms1 ribosomal small subunit homolog (yeast)									p.V194V(1)									TGGAACAGGTCCAGGCGCAGG	0.413000													28	40					0	0	0.012213	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140711869	140711869	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr5:140711869C>A	ENST00000517417.1	+	1	1618	c.1618C>A	c.(1618-1620)Ccg>Acg	p.P540T	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.P540T	NM_018912.2	NP_061735.1												p.P540T(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTGGGGATCCGCCCCTCAG	0.597000													118	128					1.24258e-46	2.36831e-46	0.014410	1	0
UBE4B	10277	broad.mit.edu	37	1	10166582	10166582	+	Silent	SNP	A	A	G			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:10166582A>G	ENST00000343090.6	+	7	1212	c.1137A>G	c.(1135-1137)ctA>ctG	p.L379L	UBE4B_ENST00000253251.8_Intron|UBE4B_ENST00000377157.3_Intron	NM_001105562.2	NP_001099032.1	O95155	UBE4B_HUMAN	ubiquitination factor E4B	379					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	p.L379L(1)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GTCCACCCCTACCACCCGCCT	0.637000													21	166					0	0	0.002780	0	0
CCDC39	339829	broad.mit.edu	37	3	180381775	180381775	+	Splice_Site	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr3:180381775C>A	ENST00000273654.4	-	8	962		c.e8-1		CCDC39_ENST00000442201.2_Splice_Site			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39						axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		p.?(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GCTTTGACAACTGTAAATAAT	0.299000													14	69					7.93312e-07	9.42058e-07	0.002450	1	0
DNM1P46	196968	broad.mit.edu	37	15	100331184	100331184	+	RNA	SNP	T	T	C			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr15:100331184T>C	ENST00000341853.1	-	0	3007					NR_003260.1																						CTTTCATCTTTGTCATTGACC	0.572000													68	61					0	0	0.014410	0	0
THNSL2	55258	broad.mit.edu	37	2	88472749	88472749	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr2:88472749G>T	ENST00000324166.5	+	1	1771	c.80G>T	c.(79-81)gGg>gTg	p.G27V	THNSL2_ENST00000449349.1_Intron|THNSL2_ENST00000343544.4_Missense_Mutation_p.G27V|THNSL2_ENST00000402102.1_Missense_Mutation_p.G27V|THNSL2_ENST00000358591.2_Missense_Mutation_p.G27V|THNSL2_ENST00000377254.3_Missense_Mutation_p.G27V	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	27					threonine biosynthetic process		threonine synthase activity	p.G27V(1)		breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						GCACCTGACGGGGGCCTCTTT	0.607000													40	111					2.40579e-17	3.74098e-17	0.006230	1	0
SNORD113-3	767563	broad.mit.edu	37	14	101396309	101396309	+	RNA	SNP	C	C	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr14:101396309C>T	ENST00000364830.2	+	0	54					NR_003231.1																						tgattaaaccctgtaactctg	0.328000													14	93					0	0	0.003163	0	0
FAM179B	23116	broad.mit.edu	37	14	45468632	45468632	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr14:45468632G>C	ENST00000361462.2	+	3	2453	c.2270G>C	c.(2269-2271)tGt>tCt	p.C757S	KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000382233.2_Missense_Mutation_p.C757S|FAM179B_ENST00000361577.3_Missense_Mutation_p.C757S			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	757							binding	p.C757S(1)		endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TCACAAATATGTGGTAAAACT	0.373000													23	104					0	0	0.004656	0	0
ZNF609	23060	broad.mit.edu	37	15	64966474	64966474	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr15:64966474C>T	ENST00000326648.3	+	4	1549	c.1421C>T	c.(1420-1422)cCc>cTc	p.P474L	ZNF609_ENST00000559364.1_3'UTR	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	474						nucleus	zinc ion binding	p.P474L(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCCACTGGCCCCCTTCCTGGG	0.522000													28	29					0	0	0.003271	0	0
CEP192	55125	broad.mit.edu	37	18	13073171	13073171	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr18:13073171G>T	ENST00000506447.1	+	30	5683	c.5603G>T	c.(5602-5604)gGc>gTc	p.G1868V	CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Missense_Mutation_p.G1393V|CEP192_ENST00000325971.8_Missense_Mutation_p.G1272V	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1463								p.G1272F(1)|p.G1868F(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TCACAACCAGGCATTAAGTTC	0.353000													66	177					1.05635e-38	1.98842e-38	0.014410	1	0
C1QA	712	broad.mit.edu	37	1	22964187	22964187	+	Nonsense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:22964187C>A	ENST00000374642.3	+	2	282	c.78C>A	c.(76-78)tgC>tgA	p.C26*	C1QA_ENST00000402322.1_Nonsense_Mutation_p.C26*	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	26					cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		p.C26*(1)		autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGACTTGTGCCGAGCACCAG	0.652000													12	18					3.27435e-08	4.01372e-08	0.002450	1	0
AHI1	54806	broad.mit.edu	37	6	135778795	135778795	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr6:135778795C>A	ENST00000367800.4	-	7	1204	c.988G>T	c.(988-990)Gat>Tat	p.D330Y	AHI1_ENST00000457866.2_Missense_Mutation_p.D330Y|AHI1_ENST00000327035.6_Missense_Mutation_p.D330Y	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	330						adherens junction|cilium|microtubule basal body		p.D330Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		ACCGGGCTATCTCGGCTTGTT	0.358000													28	144					1.07637e-12	1.52193e-12	0.004878	1	0
CXorf67	340602	broad.mit.edu	37	X	51150166	51150166	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chrX:51150166C>G	ENST00000342995.2	+	1	400	c.298C>G	c.(298-300)Cgc>Ggc	p.R100G						chromosome X open reading frame 67									p.R100G(1)		breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						GCATTCTGACCGCCAGGACTG	0.657000													7	9					0	0	0.004482	0	0
BCAM	4059	broad.mit.edu	37	19	45315594	45315594	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr19:45315594G>T	ENST00000391955.1	+	3	423	c.379G>T	c.(379-381)Gtg>Ttg	p.V127L	BCAM_ENST00000270233.6_Missense_Mutation_p.V127L			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	127	Ig-like V-type 1.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity	p.V127L(1)		central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CGTGTGCGTGGTGAGGGCAGG	0.706000													11	23					4.3838e-07	5.27792e-07	0.001855	1	0
GDF6	392255	broad.mit.edu	37	8	97156922	97156922	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr8:97156922C>T	ENST00000287020.5	-	2	1336	c.1237G>A	c.(1237-1239)Ggc>Agc	p.G413S		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	413					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	p.G413S(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					GGGGTGGAGCCGGGGTCCATG	0.597000													8	33					0	0	0.013537	0	0
MDGA2	161357	broad.mit.edu	37	14	47504483	47504483	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr14:47504483T>A	ENST00000426342.1	-	8	1402	c.656A>T	c.(655-657)cAg>cTg	p.Q219L	MDGA2_ENST00000399232.2_Missense_Mutation_p.Q517L|MDGA2_ENST00000357362.3_Missense_Mutation_p.Q219L|MDGA2_ENST00000439988.2_Missense_Mutation_p.Q448L	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	448	Ig-like 2.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		p.Q219L(2)|p.Q517L(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TGATTTTTCCTGTGGAACAGT	0.378000													28	113					0	0	0.007291	0	0
DPP4	1803	broad.mit.edu	37	2	162891790	162891790	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr2:162891790C>T	ENST00000360534.3	-	9	1218	c.658G>A	c.(658-660)Ggc>Agc	p.G220S		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	220					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	p.G220S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	AAAAAAGTGCCGTTTGGAGAC	0.423000													46	68					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179545824	179545824	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr2:179545824T>C	ENST00000589042.1	-	138	33546	c.33322A>G	c.(33322-33324)Act>Gct	p.T11108A	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.T9864A|TTN_ENST00000591111.1_Missense_Mutation_p.T10791A|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10791	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T9864A(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCGGGTTCAGTCACCTGCTCT	0.318000													10	34					0	0	0.013537	0	0
TMEM81	388730	broad.mit.edu	37	1	205053177	205053177	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:205053177T>C	ENST00000367167.3	-	1	468	c.272A>G	c.(271-273)cAt>cGt	p.H91R		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	91	Ig-like.					integral to membrane		p.H91R(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			AATGGTGAAATGGAGCATCCC	0.502000													41	103					0	0	0.013114	0	0
VENTX	27287	broad.mit.edu	37	10	135053656	135053656	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr10:135053656T>A	ENST00000325980.9	+	3	1134	c.623T>A	c.(622-624)gTg>gAg	p.V208E		NM_014468.2	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	208					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.V208E(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		CTCTGCCAAGTGGCACAAGAG	0.706000													13	7					0	0	0.001855	0	0
HCRTR2	3062	broad.mit.edu	37	6	55128554	55128554	+	Silent	SNP	C	C	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr6:55128554C>T	ENST00000370862.3	+	4	1032	c.696C>T	c.(694-696)taC>taT	p.Y232Y		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	232					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.Y232Y(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TGGTGACATACATGGCACCAC	0.378000													51	68					0	0	0.014410	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713090	70713090	+	RNA	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr14:70713090G>T	ENST00000530196.1	-	0	1428					NR_003951.1																						CAGGCATCTTGTTCACACTGC	0.493000													9	67					0.000274275	0.000303751	0.004482	1	0
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1																						GTCTTCATGCAAACTTGGTAT	0.398000													3	22					0	0	0.004672	0	0
TMEM229B	161145	broad.mit.edu	37	14	67940629	67940629	+	Silent	SNP	G	G	C			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr14:67940629G>C	ENST00000357461.2	-	3	421	c.12C>G	c.(10-12)gcC>gcG	p.A4A	TMEM229B_ENST00000557006.1_Silent_p.A4A	NM_182526.2	NP_872332.1	Q8NBD8	T229B_HUMAN	transmembrane protein 229B	4						integral to membrane		p.A4A(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TCAGGGGCTCGGCAGACGCCA	0.662000													4	4					0	0	0.000602	0	0
LARP4	113251	broad.mit.edu	37	12	50834321	50834321	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr12:50834321G>T	ENST00000398473.2	+	7	851	c.739G>T	c.(739-741)Gat>Tat	p.D247Y	LARP4_ENST00000293618.8_Missense_Mutation_p.D247Y|LARP4_ENST00000429001.3_Missense_Mutation_p.D253Y|LARP4_ENST00000522085.1_Missense_Mutation_p.D247Y|LARP4_ENST00000518444.1_Missense_Mutation_p.D246Y|LARP4_ENST00000518561.1_Missense_Mutation_p.D177Y|LARP4_ENST00000347328.5_Missense_Mutation_p.D247Y	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	247	RRM.						nucleotide binding|RNA binding	p.D247Y(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						GTCAGACACAGATGCACAACA	0.368000													18	107					4.35082e-09	5.52254e-09	0.010504	1	0
IGF2BP1	10642	broad.mit.edu	37	17	47120887	47120887	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr17:47120887G>A	ENST00000290341.3	+	10	1509	c.1175G>A	c.(1174-1176)gGg>gAg	p.G392E	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.G253E	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	392	Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	p.G392E(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AGCGTTACTGGGGCTGCTCCC	0.582000													20	36					0	0	0.007291	0	0
DFFB	1677	broad.mit.edu	37	1	3774281	3774281	+	Splice_Site	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:3774281G>T	ENST00000378209.3	+	1	437	c.114_splice	c.e1+1	p.Q38_splice	DFFB_ENST00000338895.3_Splice_Site_p.Q38_splice|DFFB_ENST00000341385.3_Splice_Site_p.Q38_splice|DFFB_ENST00000378212.2_Splice_Site_p.Q38_splice	NM_004402.2	NP_004393.1	O76075	DFFB_HUMAN	DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)	38	CIDE-N.				apoptotic chromosome condensation|DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction	cytosol|nucleoplasm	deoxyribonuclease activity|enzyme binding	p.Q38H(1)		endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		TCCGCTTCCAGGTGCCCGCTG	0.701000													8	3					0.00829132	0.00881315	0.008291	1	0
FAM47C	442444	broad.mit.edu	37	X	37028890	37028890	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chrX:37028890C>A	ENST00000358047.3	+	1	2459	c.2407C>A	c.(2407-2409)Cct>Act	p.P803T		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	803								p.P803T(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCGCCTGGAGCCTCCCAAGAC	0.582000													20	22					1.85244e-09	2.38115e-09	0.003330	1	0
BPIFA1	51297	broad.mit.edu	37	20	31825969	31825969	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr20:31825969G>T	ENST00000354297.4	+	3	340	c.269G>T	c.(268-270)gGa>gTa	p.G90V	BPIFA1_ENST00000375422.2_Missense_Mutation_p.G90V|BPIFA1_ENST00000375413.4_Missense_Mutation_p.G90V	NM_130852.2	NP_570913.1	Q9NP55	PLUNC_HUMAN	BPI fold containing family A, member 1	90					innate immune response	extracellular region	lipid binding	p.G90V(1)									CTCCTTGGGGGACTGCTTGGA	0.537000													58	87					4.80186e-42	9.12354e-42	0.014410	1	0
PDIA5	10954	broad.mit.edu	37	3	122821599	122821599	+	Splice_Site	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr3:122821599G>T	ENST00000316218.7	+	5	438	c.341_splice	c.e5-1	p.D115_splice		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	115					cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	p.D115Y(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		ATTTGACAGGGATGGTGCATT	0.383000													8	28					3.86212e-05	4.32444e-05	0.008291	1	0
FCAMR	83953	broad.mit.edu	37	1	207135748	207135748	+	Silent	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:207135748G>T	ENST00000324852.4	-	5	936	c.462C>A	c.(460-462)acC>acA	p.T154T	FCAMR_ENST00000450945.2_Silent_p.T154T|FCAMR_ENST00000400962.3_Silent_p.T154T	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	109	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity	p.T154T(2)|p.T130T(1)		endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						TGGACACAATGGTCTGGCAGA	0.562000													18	67					2.37509e-13	3.39778e-13	0.010504	1	0
GUCY1B3	2983	broad.mit.edu	37	4	156715006	156715006	+	Splice_Site	SNP	A	A	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr4:156715006A>T	ENST00000264424.8	+	6	577		c.e6-1		GUCY1B3_ENST00000505764.1_Splice_Site|GUCY1B3_ENST00000513437.1_Splice_Site|GUCY1B3_ENST00000502959.1_Splice_Site|GUCY1B3_ENST00000503520.1_Splice_Site|GUCY1B3_ENST00000507146.1_Splice_Site|GUCY1B3_ENST00000505154.1_Splice_Site	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3						blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity	p.?(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		TTTGATATCCAGGTTATTCAG	0.274000													11	40					0	0	0.010729	0	0
CSMD3	114788	broad.mit.edu	37	8	113395820	113395820	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr8:113395820C>A	ENST00000297405.5	-	37	6251	c.6007G>T	c.(6007-6009)Gct>Tct	p.A2003S	CSMD3_ENST00000343508.3_Missense_Mutation_p.A1963S|CSMD3_ENST00000455883.2_Missense_Mutation_p.A1899S|CSMD3_ENST00000352409.3_Missense_Mutation_p.A1933S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2003	CUB 11.					integral to membrane|plasma membrane		p.A2003S(1)|p.A1963S(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGTCTTGGAGCATTGTTGTCT	0.323000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			34	59					3.76114e-14	5.45769e-14	0.004289	1	0
EP400	57634	broad.mit.edu	37	12	132476772	132476772	+	Nonsense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr12:132476772G>T	ENST00000333577.4	+	12	2951	c.2842G>T	c.(2842-2844)Gaa>Taa	p.E948*	EP400_ENST00000330386.6_Nonsense_Mutation_p.E912*|EP400_ENST00000389562.2_Nonsense_Mutation_p.E911*|EP400_ENST00000332482.4_Nonsense_Mutation_p.E875*|EP400_ENST00000389561.2_Nonsense_Mutation_p.E912*			Q96L91	EP400_HUMAN	E1A binding protein p400	948					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.E911*(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GACTGATGACGAAGGTCTGTT	0.443000													62	253					2.26907e-38	4.258e-38	0.014410	1	0
TRBV7-8	28590	broad.mit.edu	37	7	142099717	142099717	+	RNA	SNP	A	A	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr7:142099717A>T	ENST00000390359.3	-	0	123																											GCGACTTTGTACCTAGGGGAC	0.478000													15	68					0	0	0.003163	0	0
TENM1	10178	broad.mit.edu	37	X	123780638	123780638	+	Silent	SNP	G	G	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chrX:123780638G>A	ENST00000422452.2	-	9	1665	c.1602C>T	c.(1600-1602)acC>acT	p.T534T	TENM1_ENST00000371130.3_Silent_p.T534T	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.T536T(1)									CATTGCAATTGGTTGAACAGT	0.373000													24	32					0	0	0.008361	0	0
ADCY7	113	broad.mit.edu	37	16	50325758	50325758	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr16:50325758G>T	ENST00000394697.2	+	4	827	c.487G>T	c.(487-489)Ggt>Tgt	p.G163C	ADCY7_ENST00000538642.1_Missense_Mutation_p.G163C|ADCY7_ENST00000537579.1_Missense_Mutation_p.G163C|ADCY7_ENST00000566433.2_Missense_Mutation_p.G163C|ADCY7_ENST00000254235.3_Missense_Mutation_p.G163C|ADCY7_ENST00000564044.1_Intron			P51828	ADCY7_HUMAN	adenylate cyclase 7	163					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	p.G163C(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CCTGGTGCTCGGTTCTTTGAT	0.617000													25	39					1.68575e-08	2.10893e-08	0.007291	1	0
UMOD	7369	broad.mit.edu	37	16	20359896	20359896	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr16:20359896C>T	ENST00000396134.2	-	4	949	c.826G>A	c.(826-828)Gtg>Atg	p.V276M	UMOD_ENST00000570689.1_Missense_Mutation_p.V243M|UMOD_ENST00000302509.4_Missense_Mutation_p.V243M|UMOD_ENST00000424589.1_Missense_Mutation_p.V276M|UMOD_ENST00000396138.4_Missense_Mutation_p.V292M|UMOD_ENST00000396142.2_Missense_Mutation_p.V243M	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	243					cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	p.V243M(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TTGCGGCTCACGATGCCCTCG	0.687000													8	4					0	0	0.004482	0	0
TSTA3	7264	broad.mit.edu	37	8	144695114	144695114	+	Nonsense_Mutation	SNP	C	C	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr8:144695114C>T	ENST00000425753.2	-	11	1035	c.932G>A	c.(931-933)tGg>tAg	p.W311*	TSTA3_ENST00000529064.1_Nonsense_Mutation_p.W311*	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	311					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity	p.W311*(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)	GTCAGTGAACCAAGCACAGGT	0.667000													5	12					0	0	0.001984	0	0
LRP1B	53353	broad.mit.edu	37	2	141641433	141641433	+	Silent	SNP	T	T	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr2:141641433T>A	ENST00000389484.3	-	25	5093	c.4122A>T	c.(4120-4122)gcA>gcT	p.A1374A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1374					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.A1374A(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCATGGCTCCTGCTATTAGTG	0.428000										TSP Lung(27;0.18)			59	95					0	0	0.014410	0	0
UBE3A	7337	broad.mit.edu	37	15	25650634	25650634	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr15:25650634C>A	ENST00000232165.3	-	4	692	c.36G>T	c.(34-36)caG>caT	p.Q12H	UBE3A_ENST00000566215.1_5'UTR|UBE3A_ENST00000428984.2_5'UTR|UBE3A_ENST00000397954.2_Missense_Mutation_p.Q15H|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000438097.1_5'UTR	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	15					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	p.Q15H(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		TGTCGTCAGACTGAGGTTCTC	0.348000													27	31					1.2476e-16	1.90588e-16	0.006320	1	0
CPVL	54504	broad.mit.edu	37	7	29103813	29103813	+	Nonsense_Mutation	SNP	G	G	C			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr7:29103813G>C	ENST00000409850.1	-	15	1647	c.1001C>G	c.(1000-1002)tCa>tGa	p.S334*	CPVL_ENST00000265394.5_Nonsense_Mutation_p.S334*|CPVL_ENST00000396276.3_Nonsense_Mutation_p.S334*			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	334					proteolysis		protein binding|serine-type carboxypeptidase activity	p.S334*(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						CTCTGGGAGTGACAAAAATTT	0.443000													26	73					0	0	0.004656	0	0
MKLN1	4289	broad.mit.edu	37	7	131071982	131071982	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr7:131071982G>C	ENST00000352689.6	+	3	312	c.272G>C	c.(271-273)gGt>gCt	p.G91A	MKLN1_ENST00000421797.2_5'UTR|MKLN1_ENST00000429546.1_5'UTR	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	91					signal transduction	cytoplasm	protein binding	p.G91A(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					AAAGTCTTTGGTGGAATGAAT	0.338000													23	69					0	0	0.003330	0	0
EREG	2069	broad.mit.edu	37	4	75246782	75246782	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr4:75246782G>T	ENST00000244869.2	+	3	372	c.206G>T	c.(205-207)aGc>aTc	p.S69I		NM_001432.2	NP_001423.1	O14944	EREG_HUMAN	epiregulin	69	EGF-like.				angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of DNA replication|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing	extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity	p.S69I(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13			Lung(101;0.196)			ACAAAGTGTAGCTCTGACATG	0.398000													35	177					9.17885e-22	1.52479e-21	0.003271	1	0
ZNF761	388561	broad.mit.edu	37	19	53958199	53958199	+	RNA	SNP	G	G	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr19:53958199G>A	ENST00000454407.1	+	0	891							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S92S(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GCTTTCATTCGCATCTGCCTG	0.378000													14	122					0	0	0.001855	0	0
AGO2	27161	broad.mit.edu	37	8	141549520	141549520	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr8:141549520C>T	ENST00000220592.5	-	16	2180	c.2068G>A	c.(2068-2070)Gcc>Acc	p.A690T	AGO2_ENST00000519980.1_Missense_Mutation_p.A690T	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2									p.A690T(1)									TTGATACAGGCCTCACGGATG	0.567000													20	76					0	0	0.014323	0	0
PCLO	27445	broad.mit.edu	37	7	82584907	82584907	+	Nonsense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr7:82584907C>A	ENST00000423517.2	-	5	5699	c.5362G>T	c.(5362-5364)Gag>Tag	p.E1788*	PCLO_ENST00000333891.8_Nonsense_Mutation_p.E1788*	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1719					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.E1788*(2)|p.E1719*(1)		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						TTTTCTTGCTCCTTTAATAAT	0.403000													52	96					6.32628e-17	9.68861e-17	0.014410	1	0
LCT	3938	broad.mit.edu	37	2	136569909	136569909	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr2:136569909G>T	ENST00000264162.2	-	7	2335	c.2325C>A	c.(2323-2325)ttC>ttA	p.F775L		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	775	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.F775L(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TATATTGATTGAAGTAGTCTA	0.403000													44	167					3.4345e-17	5.29993e-17	0.011902	1	0
IGFN1	91156	broad.mit.edu	37	1	201195114	201195114	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:201195114G>T	ENST00000335211.4	+	22	10779	c.10649G>T	c.(10648-10650)cGc>cTc	p.R3550L	IGFN1_ENST00000295591.8_3'UTR	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1									p.R3550L(1)|p.R710L(1)		autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCAGCCGACCGCATCCACACC	0.657000													15	43					1.3612e-06	1.59771e-06	0.003163	1	0
ZNF148	7707	broad.mit.edu	37	3	124952110	124952110	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr3:124952110T>A	ENST00000360647.4	-	9	1945	c.1460A>T	c.(1459-1461)tAt>tTt	p.Y487F	SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000484491.1_Missense_Mutation_p.Y487F|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000485866.1_Missense_Mutation_p.Y487F|ZNF148_ENST00000492394.1_Missense_Mutation_p.Y487F	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	487					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	p.Y487F(1)		breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						ATTCAGCGCATATTCCCTGCT	0.438000													43	134					0	0	0.009718	0	0
STK31	56164	broad.mit.edu	37	7	23826176	23826176	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr7:23826176C>T	ENST00000354639.3	+	19	2719	c.2255C>T	c.(2254-2256)gCc>gTc	p.A752V	STK31_ENST00000428484.1_Missense_Mutation_p.A752V|STK31_ENST00000433467.2_Missense_Mutation_p.A775V|STK31_ENST00000355870.3_Missense_Mutation_p.A775V|STK31_ENST00000405627.3_3'UTR	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	775	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	p.A775V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GAGAGAGCAGCCACCTACCAT	0.413000													8	88					0	0	0.006214	0	0
SACS	26278	broad.mit.edu	37	13	23929924	23929924	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr13:23929924C>T	ENST00000382298.3	-	8	1415	c.827G>A	c.(826-828)cGc>cAc	p.R276H	SACS_ENST00000402364.1_5'UTR|SACS_ENST00000382292.3_Missense_Mutation_p.R276H	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	276					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	p.R129H(2)|p.R276H(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AGGTTGTAGGCGAAGAGGGAA	0.413000													35	65					0	0	0.006230	0	0
ASTN1	460	broad.mit.edu	37	1	176992651	176992651	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:176992651G>A	ENST00000367654.2	-	7	1340	c.1327C>T	c.(1327-1329)Cct>Tct	p.P443S	ASTN1_ENST00000367657.3_Missense_Mutation_p.P443S|ASTN1_ENST00000361833.2_Missense_Mutation_p.P443S|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.P443S			O14525	ASTN1_HUMAN	astrotactin 1	443					cell migration|neuron cell-cell adhesion	integral to membrane		p.P443S(2)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						ACTTGGGCAGGGTTCAGCCAG	0.597000													22	15					0	0	0.014323	0	0
LILRB1	10859	broad.mit.edu	37	19	55143930	55143930	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr19:55143930C>A	ENST00000396331.1	+	7	1034	c.677C>A	c.(676-678)cCa>cAa	p.P226Q	LILRB1_ENST00000427581.2_Missense_Mutation_p.P262Q|LILRB1_ENST00000434867.2_Missense_Mutation_p.P226Q|LILRB1_ENST00000418536.2_Missense_Mutation_p.P226Q|LILRB1_ENST00000396315.1_Missense_Mutation_p.P226Q|LILRB1_ENST00000396317.1_Missense_Mutation_p.P226Q|LILRB1_ENST00000396327.3_Missense_Mutation_p.P226Q|LILRB1_ENST00000396332.4_Missense_Mutation_p.P226Q|LILRB1_ENST00000396321.2_Missense_Mutation_p.P226Q|LILRB1_ENST00000324602.7_Missense_Mutation_p.P226Q|LILRB1_ENST00000448689.1_Missense_Mutation_p.P226Q	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	226	Ig-like C2-type 3.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.P226Q(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TCTAAGAAGCCATCACTCTCA	0.552000										HNSCC(37;0.09)			15	79					6.31663e-08	7.69641e-08	0.003163	1	0
DDX53	168400	broad.mit.edu	37	X	23019064	23019064	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chrX:23019064C>A	ENST00000327968.5	+	1	978	c.890C>A	c.(889-891)cCt>cAt	p.P297H	RP11-40F8.2_ENST00000455399.1_RNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	297	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding	p.P297H(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						AGGAATGGGCCTGGGATGCTA	0.413000													36	73					1.96642e-18	3.13801e-18	0.006999	1	0
UBN2	254048	broad.mit.edu	37	7	138946416	138946416	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr7:138946416C>T	ENST00000288561.8	+	6	1324	c.1075C>T	c.(1075-1077)Ccc>Tcc	p.P359S	UBN2_ENST00000473989.2_Missense_Mutation_p.P442S	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	442								p.P359S(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TCAGGTTATGCCCAAAGTGGT	0.468000													4	139					0	0	0.001168	0	0
NFATC1	4772	broad.mit.edu	37	18	77171101	77171101	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr18:77171101C>G	ENST00000253506.5	+	2	1195	c.826C>G	c.(826-828)Ccc>Gcc	p.P276A	NFATC1_ENST00000587635.1_Missense_Mutation_p.P276A|NFATC1_ENST00000329101.4_Missense_Mutation_p.P263A|NFATC1_ENST00000318065.5_Missense_Mutation_p.P263A|NFATC1_ENST00000591814.1_Missense_Mutation_p.P276A|NFATC1_ENST00000586434.1_Missense_Mutation_p.P263A|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000542384.1_Missense_Mutation_p.P276A|NFATC1_ENST00000592223.1_Missense_Mutation_p.P263A|NFATC1_ENST00000427363.2_Missense_Mutation_p.P276A|NFATC1_ENST00000397790.2_Intron	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	276	3 X SP repeats.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.P263A(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CCGGCAGCCGCCCTACTCACC	0.697000													8	16					0	0	0.008291	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537492	5537492	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr11:5537492C>A	ENST00000380184.1	-	1	443	c.180G>T	c.(178-180)ttG>ttT	p.L60F	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	60	Ubiquitin-like.							p.L60F(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		GGAAGTGAGCCAATAGCATCT	0.502000													15	70					8.60227e-14	1.24232e-13	0.004007	1	0
CNTNAP4	85445	broad.mit.edu	37	16	76481991	76481991	+	Silent	SNP	T	T	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr16:76481991T>A	ENST00000307431.8	+	6	1003	c.618T>A	c.(616-618)atT>atA	p.I206I	CNTNAP4_ENST00000377504.4_Silent_p.I206I|CNTNAP4_ENST00000476707.1_Silent_p.I210I|CNTNAP4_ENST00000478060.1_Silent_p.I182I|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	207					cell adhesion|signal transduction	integral to membrane	receptor binding	p.I182I(2)|p.I206I(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TAAAAGACATTATTTCTTTGA	0.388000													32	54					0	0	0.013726	0	0
RANBP3L	202151	broad.mit.edu	37	5	36271399	36271399	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr5:36271399C>G	ENST00000296604.3	-	2	591	c.106G>C	c.(106-108)Gct>Cct	p.A36P	RANBP3L_ENST00000502994.1_Missense_Mutation_p.A36P|RANBP3L_ENST00000515759.1_Missense_Mutation_p.A36P	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	36					intracellular transport			p.A36P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			ATGGGTTGAGCAATGACAGAT	0.274000													17	16					0	0	0.007413	0	0
ZNF525	170958	broad.mit.edu	37	19	53885137	53885137	+	Silent	SNP	A	A	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr19:53885137A>T	ENST00000467003.1	+	4	1398	c.1197A>T	c.(1195-1197)ggA>ggT	p.G399G	ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000474037.1_Silent_p.G435G|ZNF525_ENST00000355326.3_Silent_p.G153G					zinc finger protein 525									p.G435G(1)		endometrium(3)|kidney(3)|lung(3)	9						TTCATAATGGAGAGAAACTGT	0.398000													15	39					0	0	0.007413	0	0
COL14A1	7373	broad.mit.edu	37	8	121267478	121267478	+	Splice_Site	SNP	G	G	C			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr8:121267478G>C	ENST00000297848.3	+	23	3022		c.e23-1		COL14A1_ENST00000247781.3_Splice_Site|COL14A1_ENST00000309791.4_Splice_Site|COL14A1_ENST00000432943.2_Splice_Site	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1						cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TTTCATTCCAGTGTTCTTGGG	0.433000													26	146					0	0	0.007291	0	0
SPEN	23013	broad.mit.edu	37	1	16255835	16255835	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:16255835G>A	ENST00000375759.3	+	11	3304	c.3100G>A	c.(3100-3102)Gag>Aag	p.E1034K		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1034					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	p.E1034K(1)		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)		GAGGGAAGGAGAGGCTGAAAG	0.448000													7	102					0	0	0.001984	0	0
GINS1	9837	broad.mit.edu	37	20	25405910	25405910	+	Nonsense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr20:25405910G>T	ENST00000262460.4	+	5	488	c.394G>T	c.(394-396)Gaa>Taa	p.E132*	GINS1_ENST00000429262.2_3'UTR	NM_021067.3	NP_066545.3	Q14691	PSF1_HUMAN	GINS complex subunit 1 (Psf1 homolog)	132					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm		p.E132*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						GGGAGGAGATGAAGGTTTGGA	0.303000													28	86					1.08312e-15	1.63409e-15	0.009535	1	0
SLC9A4	389015	broad.mit.edu	37	2	103095688	103095688	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr2:103095688A>G	ENST00000295269.4	+	2	1104	c.647A>G	c.(646-648)gAg>gGg	p.E216G		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	216					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	p.E216G(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GCCGTGTTTGAGGAAGCGCGC	0.602000													10	26					0	0	0.010729	0	0
THAP5	168451	broad.mit.edu	37	7	108205159	108205159	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr7:108205159G>C	ENST00000415914.3	-	3	817	c.664C>G	c.(664-666)Caa>Gaa	p.Q222E	THAP5_ENST00000313516.5_Missense_Mutation_p.Q180E|THAP5_ENST00000493722.1_5'UTR|THAP5_ENST00000438865.1_3'UTR	NM_001130475.1	NP_001123947.1	Q7Z6K1	THAP5_HUMAN	THAP domain containing 5	222					cell cycle|negative regulation of cell cycle	nucleus	DNA binding|metal ion binding|protease binding	p.Q222E(1)|p.Q60E(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						AGAACTTCTTGAGTTTCCAAA	0.328000													28	30					0	0	0.006320	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73205255	73205255	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr4:73205255C>A	ENST00000286657.4	-	5	853	c.817G>T	c.(817-819)Ggc>Tgc	p.G273C		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	273	Peptidase M12B.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	p.G273C(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGCTCTTTGCCATGGAAACGG	0.438000													22	590					3.08376e-08	3.7954e-08	0.003330	1	0
GRIK3	2899	broad.mit.edu	37	1	37282790	37282790	+	Silent	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:37282790C>A	ENST00000373091.3	-	13	1978	c.1962G>T	c.(1960-1962)acG>acT	p.T654T	GRIK3_ENST00000373093.4_Silent_p.T654T	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	654					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	p.T654T(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CCAGGTTGGCCGTGTAGGAAG	0.552000													17	80					3.45872e-05	3.89426e-05	0.004007	1	0
PDHA2	5161	broad.mit.edu	37	4	96761804	96761804	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr4:96761804A>G	ENST00000295266.4	+	1	566	c.503A>G	c.(502-504)cAg>cGg	p.Q168R		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	168					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	p.Q168R(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	GTCGGTGCACAGGGCCCCCTG	0.517000													23	99					0	0	0.003330	0	0
FAM169A	26049	broad.mit.edu	37	5	74096754	74096754	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr5:74096754C>A	ENST00000389156.4	-	10	1144	c.1054G>T	c.(1054-1056)Ggt>Tgt	p.G352C	FAM169A_ENST00000380515.3_3'UTR|FAM169A_ENST00000510496.1_Missense_Mutation_p.G292C	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	352								p.G352C(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						TCATCTTCACCTTGAGAACTG	0.333000													80	74					1.04462e-60	2.02916e-60	0.014410	1	0
RASGRF2	5924	broad.mit.edu	37	5	80408616	80408616	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr5:80408616G>A	ENST00000265080.4	+	14	2093	c.2026G>A	c.(2026-2028)Gct>Act	p.A676T		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	676	N-terminal Ras-GEF.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	p.A676T(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CACTACTGCCGCTGTGGTGCT	0.493000													29	134					0	0	0.010818	0	0
TTN	7273	broad.mit.edu	37	2	179565846	179565846	+	Splice_Site	SNP	C	C	A	rs112818474		TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr2:179565846C>A	ENST00000589042.1	-	111	30907		c.e111+1		TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000591111.1_Splice_Site|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.?(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGTATAATACCTTCAATACG	0.423000													33	105					2.42023e-17	3.74428e-17	0.003271	1	0
RBM39	9584	broad.mit.edu	37	20	34295112	34295112	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr20:34295112C>A	ENST00000361162.6	-	14	1603	c.1219G>T	c.(1219-1221)Gct>Tct	p.A407S	RBM39_ENST00000528062.3_Missense_Mutation_p.A391S|RBM39_ENST00000253363.6_Missense_Mutation_p.A413S|RBM39_ENST00000407261.4_Missense_Mutation_p.A256S	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	Q14498	RBM39_HUMAN	RNA binding motif protein 39	413	Interaction with NCOA6 (By similarity).				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding	p.A413S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					GCAGCTGCAGCTAAAGCTGAA	0.358000													24	32					3.08376e-08	3.7954e-08	0.003330	1	0
BMPER	168667	broad.mit.edu	37	7	34192785	34192785	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr7:34192785G>T	ENST00000297161.2	+	16	2332	c.1958G>T	c.(1957-1959)gGt>gTt	p.G653V	BMPER_ENST00000426693.1_Missense_Mutation_p.G653V	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	653	TIL.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		p.G653V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						AATGAAATTGGTCCATGCAAC	0.527000													81	168					1.04643e-32	1.91059e-32	0.014410	1	0
COL28A1	340267	broad.mit.edu	37	7	7420472	7420472	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr7:7420472C>T	ENST00000399429.3	-	29	2367	c.2227G>A	c.(2227-2229)Gat>Aat	p.D743N		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	743	Collagen-like 6.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	p.D743N(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TTTCCCACATCGCCCCGTTCT	0.388000													13	318					0	0	0.003163	0	0
COL4A5	1287	broad.mit.edu	37	X	107840652	107840652	+	Missense_Mutation	SNP	G	G	A	rs104886126		TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chrX:107840652G>A	ENST00000328300.6	+	24	1877	c.1633G>A	c.(1633-1635)Ggt>Agt	p.G545S	COL4A5_ENST00000361603.2_Missense_Mutation_p.G545S	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	545	Triple-helical region.		G -> R (in APSX).|G -> V (in APSX).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	p.G545S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TGGATCTAAAGGTGAACCTGG	0.473000									Alport syndrome with Diffuse Leiomyomatosis				5	147					0	0	0.001168	0	0
LILRB1	10859	broad.mit.edu	37	19	55143453	55143453	+	Silent	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr19:55143453C>A	ENST00000396331.1	+	6	783	c.426C>A	c.(424-426)atC>atA	p.I142I	LILRB1_ENST00000427581.2_Silent_p.I178I|LILRB1_ENST00000434867.2_Silent_p.I142I|LILRB1_ENST00000418536.2_Silent_p.I142I|LILRB1_ENST00000396315.1_Silent_p.I142I|LILRB1_ENST00000396317.1_Silent_p.I142I|LILRB1_ENST00000396327.3_Silent_p.I142I|LILRB1_ENST00000396332.4_Silent_p.I142I|LILRB1_ENST00000396321.2_Silent_p.I142I|LILRB1_ENST00000324602.7_Silent_p.I142I|LILRB1_ENST00000448689.1_Silent_p.I142I	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	142	Ig-like C2-type 2.		I -> T (in dbSNP:rs1061680).		regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.I142I(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GGAATGTAATCCTCCAGTGTG	0.552000										HNSCC(37;0.09)			12	94					4.7546e-09	6.0225e-09	0.004007	1	0
EIF5B	9669	broad.mit.edu	37	2	99976702	99976702	+	Silent	SNP	C	C	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr2:99976702C>T	ENST00000289371.5	+	2	241	c.39C>T	c.(37-39)acC>acT	p.T13T		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	13					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	p.T13T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATTTAAGCACCAAGGATGACA	0.338000													12	54					0	0	0.001855	0	0
OR9G1	390174	broad.mit.edu	37	11	56468369	56468369	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr11:56468369G>T	ENST00000312153.1	+	1	506	c.506G>T	c.(505-507)cGt>cTt	p.R169L		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1									p.R169L(2)		breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						AACTTCTGCCGTGAAAACATC	0.428000													28	189					1.17739e-12	1.64187e-12	0.005443	1	0
SORCS2	57537	broad.mit.edu	37	4	7728561	7728561	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr4:7728561G>T	ENST00000507866.2	+	21	2909	c.2800G>T	c.(2800-2802)Gtg>Ttg	p.V934L	SORCS2_ENST00000329016.9_Missense_Mutation_p.V762L	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	934						integral to membrane	neuropeptide receptor activity	p.V784L(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						CACGGGCGACGTGCGTGTGAC	0.652000													62	39					4.67498e-28	8.31108e-28	0.014410	1	0
ABL2	27	broad.mit.edu	37	1	179077769	179077769	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:179077769C>A	ENST00000502732.1	-	12	2836	c.2633G>T	c.(2632-2634)gGg>gTg	p.G878V	ABL2_ENST00000408940.3_Missense_Mutation_p.G842V|ABL2_ENST00000504405.1_Missense_Mutation_p.G739V|ABL2_ENST00000511413.1_Missense_Mutation_p.G775V|ABL2_ENST00000512653.1_Missense_Mutation_p.G863V|ABL2_ENST00000507173.1_Missense_Mutation_p.G754V|ABL2_ENST00000344730.3_Missense_Mutation_p.G760V|ABL2_ENST00000367623.4_Missense_Mutation_p.G857V	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	878	F-actin-binding (By similarity).|Pro-rich.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.G842V(1)|p.G878V(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CACTCCCACCCCTGGAGGGTC	0.582000			T	ETV6	AML								22	92					2.32173e-10	3.04227e-10	0.004878	1	0
HRH4	59340	broad.mit.edu	37	18	22056939	22056939	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr18:22056939A>T	ENST00000256906.4	+	3	686	c.586A>T	c.(586-588)Aat>Tat	p.N196Y	HRH4_ENST00000426880.2_Missense_Mutation_p.N108Y	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	196						integral to membrane|plasma membrane	histamine receptor activity	p.N196Y(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	TTTCAACATGAATATTTATTG	0.438000													36	197					0	0	0.006230	0	0
TRPC7	57113	broad.mit.edu	37	5	135583167	135583167	+	Silent	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr5:135583167C>A	ENST00000513104.1	-	7	2118	c.1836G>T	c.(1834-1836)gcG>gcT	p.A612A	TRPC7_ENST00000355180.3_Silent_p.A551A|TRPC7_ENST00000426057.2_Silent_p.A496A	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	612					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	p.A612A(2)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACGTTGTAAACGCTGGGTTGT	0.483000													6	43					0.000157383	0.000174934	0.003080	1	0
TMEM132C	92293	broad.mit.edu	37	12	128899865	128899865	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr12:128899865C>A	ENST00000435159.2	+	2	674	c.674C>A	c.(673-675)cCt>cAt	p.P225H		NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	225						integral to membrane		p.P225H(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						GAGGGGACCCCTGTGGAGCTC	0.652000													5	5					0.000602214	0.000657354	0.000602	1	0
THSD1	55901	broad.mit.edu	37	13	52971467	52971467	+	Silent	SNP	C	C	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr13:52971467C>T	ENST00000349258.4	-	3	1465	c.921G>A	c.(919-921)ttG>ttA	p.L307L	THSD1_ENST00000544466.1_Intron|THSD1_ENST00000258613.4_Silent_p.L307L	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	307						extracellular region|integral to membrane|intracellular membrane-bounded organelle		p.L307L(1)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CCATGTCAAACAAAGTACAGT	0.458000													48	52					0	0	0.014410	0	0
ZNF831	128611	broad.mit.edu	37	20	57766376	57766376	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr20:57766376G>T	ENST00000371030.2	+	1	302	c.302G>T	c.(301-303)gGc>gTc	p.G101V		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	101	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding	p.G101V(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GAAGGGCCTGGCCCCACCCAG	0.726000													11	9					5.16669e-11	6.88892e-11	0.010729	1	0
LAMB4	22798	broad.mit.edu	37	7	107718762	107718762	+	Splice_Site	SNP	C	C	G			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr7:107718762C>G	ENST00000388781.3	-	16	1971		c.e16-1		LAMB4_ENST00000388780.3_Splice_Site|LAMB4_ENST00000205386.4_Splice_Site|LAMB4_ENST00000414450.2_Splice_Site	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4						cell adhesion	basement membrane		p.?(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CAGCTGCAGACTAGACAGGCA	0.478000													7	10					0	0	0.003080	0	0
OR10G7	390265	broad.mit.edu	37	11	123909148	123909148	+	Silent	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr11:123909148G>T	ENST00000330487.5	-	1	569	c.561C>A	c.(559-561)gcC>gcA	p.A187A		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A187A(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		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)		TGTCTGCACAGGCCAGTTTCA	0.527000													105	247					2.12763e-61	4.14615e-61	0.014410	1	0
CTNND2	1501	broad.mit.edu	37	5	11385018	11385018	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr5:11385018G>T	ENST00000304623.8	-	7	1125	c.936C>A	c.(934-936)agC>agA	p.S312R	CTNND2_ENST00000511377.1_Missense_Mutation_p.S221R|CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000458100.2_Intron|CTNND2_ENST00000359640.2_Missense_Mutation_p.S312R	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	312					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.S312R(1)		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						GCGAGCTGGTGCTGTAGGACT	0.736000													3	22					2.56e-06	2.98176e-06	0.009096	1	0
IARS	3376	broad.mit.edu	37	9	94984884	94984884	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr9:94984884T>A	ENST00000375643.3	-	33	3890	c.3624A>T	c.(3622-3624)caA>caT	p.Q1208H	IARS_ENST00000443024.2_Missense_Mutation_p.Q1208H|IARS_ENST00000375629.3_3'UTR|IARS_ENST00000447699.2_Missense_Mutation_p.Q1098H	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	1208					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	p.Q1208H(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	ACAGAAGACCTTGGTGGGTGA	0.493000													60	186					0	0	0.014410	0	0
REG1B	5968	broad.mit.edu	37	2	79313531	79313531	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr2:79313531C>A	ENST00000305089.3	-	4	363	c.283G>T	c.(283-285)Gac>Tac	p.D95Y		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	95	C-type lectin.				cell proliferation	extracellular region	sugar binding	p.D95Y(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						ACATTGCTGTCATCAGTGCTA	0.493000													33	64					1.414e-09	1.82143e-09	0.003755	1	0
NPR1	4881	broad.mit.edu	37	1	153653755	153653755	+	Missense_Mutation	SNP	A	A	C			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:153653755A>C	ENST00000368680.3	+	3	1493	c.1021A>C	c.(1021-1023)Atg>Ctg	p.M341L	NPR1_ENST00000413826.1_Intron	NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	341					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	p.M341L(1)		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)	CAACTTCACCATGGAGGATGG	0.537000													41	67					0	0	0.014410	0	0
TENM3	55714	broad.mit.edu	37	4	183675777	183675777	+	Silent	SNP	T	T	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr4:183675777T>A	ENST00000511685.1	+	22	4380	c.4257T>A	c.(4255-4257)acT>acA	p.T1419T	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Silent_p.T1419T					teneurin transmembrane protein 3									p.T1419T(1)									TGTACATTACTGAAACTGATG	0.488000													13	36					0	0	0.001855	0	0
OR51G1	79324	broad.mit.edu	37	11	4945495	4945495	+	Silent	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr11:4945495G>T	ENST00000321961.2	-	1	142	c.75C>A	c.(73-75)ctC>ctA	p.L25L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L25L(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCAGCCATGGAGACCTTCTA	0.463000													18	77					6.33239e-15	9.36762e-15	0.010504	1	0
CACNA2D3	55799	broad.mit.edu	37	3	55107852	55107852	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr3:55107852G>A	ENST00000474759.1	+	37	3197	c.3149G>A	c.(3148-3150)aGg>aAg	p.R1050K	CACNA2D3_ENST00000288197.5_Missense_Mutation_p.R1050K|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.R1050K|CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.R956K	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	1050						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.R1051K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		AAGATCAGAAGGCGCCCAGAA	0.448000													16	11					0	0	0.004007	0	0
DDAH2	23564	broad.mit.edu	37	6	31696006	31696006	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr6:31696006C>A	ENST00000375789.2	-	4	1165	c.535G>T	c.(535-537)Ggg>Tgg	p.G179W	DDAH2_ENST00000480913.1_5'UTR|DDAH2_ENST00000375792.3_Missense_Mutation_p.G179W|DDAH2_ENST00000375787.2_Missense_Mutation_p.G179W			O95865	DDAH2_HUMAN	dimethylarginine dimethylaminohydrolase 2	179					anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction	cytoplasm	dimethylargininase activity|protein binding	p.G179W(1)		endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	11					L-Citrulline(DB00155)	CGAGGTCCCCCCATGCCGCAG	0.682000													34	39					6.31075e-24	1.07477e-23	0.014410	1	0
LYL1	4066	broad.mit.edu	37	19	13211933	13211933	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr19:13211933G>T	ENST00000264824.4	-	2	413	c.53C>A	c.(52-54)gCa>gAa	p.A18E		NM_005583.4	NP_005574.2	P12980	LYL1_HUMAN	lymphoblastic leukemia derived sequence 1	18					B cell differentiation|blood vessel maturation|definitive hemopoiesis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.A18E(1)		cervix(1)|endometrium(2)|kidney(1)|lung(2)|prostate(1)	7			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)			CACCATCTCTGCCTTCTCAGT	0.697000			T	TRB@	T-ALL								4	4					2.7689e-08	3.43569e-08	0.001984	1	0
SPOCK2	9806	broad.mit.edu	37	10	73826772	73826772	+	Silent	SNP	G	G	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr10:73826772G>A	ENST00000373109.2	-	8	1260	c.816C>T	c.(814-816)gcC>gcT	p.A272A	SPOCK2_ENST00000460053.1_5'UTR|SPOCK2_ENST00000536168.1_Silent_p.A272A|SPOCK2_ENST00000317376.4_Silent_p.A272A	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	272					extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding	p.A272A(1)		endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CCAGGTTGATGGCGGCCAGCT	0.582000													11	78					0	0	0.010729	0	0
RYR2	6262	broad.mit.edu	37	1	237947112	237947112	+	Nonsense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:237947112G>T	ENST00000366574.2	+	90	12417	c.12100G>T	c.(12100-12102)Gaa>Taa	p.E4034*	RYR2_ENST00000542537.1_Nonsense_Mutation_p.E4018*|RYR2_ENST00000360064.6_Nonsense_Mutation_p.E4040*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4034	EF-hand.				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	p.E4032*(1)		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)			TACTTTTAAAGAATATGACCC	0.408000													8	33					0.00307968	0.00330821	0.003080	1	0
HIST1H2BL	8340	broad.mit.edu	37	6	27775345	27775345	+	Nonsense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr6:27775345C>A	ENST00000377401.2	-	1	364	c.340G>T	c.(340-342)Gag>Tag	p.E114*		NM_003519.3	NP_003510.1	Q99880	H2B1L_HUMAN	histone cluster 1, H2bl	114					nucleosome assembly	nucleosome|nucleus	DNA binding	p.E114*(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						TTGGTGCCCTCCGACACCGCG	0.577000													51	93					2.76378e-25	4.76029e-25	0.014410	1	0
DPY19L2P2	349152	broad.mit.edu	37	7	102915919	102915919	+	RNA	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr7:102915919C>A	ENST00000312132.4	-	0	860																											ggactgccagcatgctgtcac	0.522000													4	10					0.00909568	0.00958436	0.009096	1	0
EPB41L3	23136	broad.mit.edu	37	18	5397212	5397212	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr18:5397212C>A	ENST00000341928.2	-	18	3026	c.2686G>T	c.(2686-2688)Gcc>Tcc	p.A896S	EPB41L3_ENST00000400111.3_Missense_Mutation_p.A674S|EPB41L3_ENST00000342933.3_Missense_Mutation_p.A896S|EPB41L3_ENST00000542146.1_Missense_Mutation_p.A201S|EPB41L3_ENST00000544123.1_Missense_Mutation_p.A727S|EPB41L3_ENST00000427684.2_Missense_Mutation_p.A193S|EPB41L3_ENST00000540638.2_Missense_Mutation_p.A674S|EPB41L3_ENST00000542652.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	896	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	p.A896S(1)		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						TCCGTCAAGGCAGAGCCCTCT	0.602000													40	131					4.18559e-23	7.04941e-23	0.014410	1	0
CYP46A1	10858	broad.mit.edu	37	14	100166391	100166391	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr14:100166391G>T	ENST00000261835.3	+	5	500	c.396G>T	c.(394-396)gaG>gaT	p.E132D	CYP46A1_ENST00000423126.2_Missense_Mutation_p.E35D	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	132					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity	p.E132D(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GCAACTATGAGCGCTGGCACA	0.627000													6	40					0.000442599	0.000485741	0.006214	1	0
DSC1	1823	broad.mit.edu	37	18	28713983	28713983	+	Nonsense_Mutation	SNP	T	T	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr18:28713983T>A	ENST00000257197.3	-	13	2248	c.1987A>T	c.(1987-1989)Aga>Tga	p.R663*	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Nonsense_Mutation_p.R663*	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	663	Cadherin 5.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	p.R663*(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TCACATACTCTCACTGTTAAC	0.363000													77	210					0	0	0.014410	0	0
CADPS2	93664	broad.mit.edu	37	7	121985699	121985699	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr7:121985699A>G	ENST00000334010.7	-	26	3956	c.3535T>C	c.(3535-3537)Ttt>Ctt	p.F1179L	RP5-1101C3.1_ENST00000482375.1_RNA|RP5-1101C3.1_ENST00000593910.1_RNA|RP5-1101C3.1_ENST00000602199.1_RNA|CADPS2_ENST00000449022.2_Missense_Mutation_p.F1181L|CADPS2_ENST00000313070.7_Missense_Mutation_p.F1140L|RP5-1101C3.1_ENST00000602012.1_RNA|CADPS2_ENST00000412584.2_Missense_Mutation_p.F1140L|RP5-1101C3.1_ENST00000591140.1_RNA	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	1181					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	p.F1178L(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TGCCGAACAAACATAATATAG	0.358000													20	99					0	0	0.003330	0	0
RPTOR	57521	broad.mit.edu	37	17	78897445	78897445	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr17:78897445G>T	ENST00000306801.3	+	23	3142	c.2780G>T	c.(2779-2781)cGg>cTg	p.R927L	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.R769L	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	927					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	p.R927L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CCCCGGACACGGAAGATGTTC	0.662000													7	11					7.48243e-07	8.93775e-07	0.006214	1	0
POLR2B	5431	broad.mit.edu	37	4	57857037	57857037	+	Silent	SNP	G	G	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr4:57857037G>A	ENST00000381227.1	+	4	629	c.216G>A	c.(214-216)caG>caA	p.Q72Q	POLR2B_ENST00000441246.2_Silent_p.Q65Q|POLR2B_ENST00000314595.5_Silent_p.Q72Q|POLR2B_ENST00000431623.2_Intron			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	72					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	p.Q72Q(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					CTGAAGCTCAGCATGCTAGTG	0.413000													17	62					0	0	0.004990	0	0
DOCK3	1795	broad.mit.edu	37	3	51284221	51284221	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr3:51284221A>T	ENST00000266037.9	+	22	2190	c.2167A>T	c.(2167-2169)Att>Ttt	p.I723F		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	723						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	p.I712F(1)|p.I723F(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		ACAGGACCACATTCAAGAAGC	0.443000													10	10					0	0	0.013537	0	0
RNF220	55182	broad.mit.edu	37	1	45088460	45088460	+	Splice_Site	SNP	G	G	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:45088460G>A	ENST00000355387.2	+	4	1254		c.e4+1		RNF220_ENST00000361799.2_Splice_Site|RNF220_ENST00000443020.2_Splice_Site|RNF220_ENST00000372247.2_Splice_Site			Q5VTB9	RN220_HUMAN	ring finger protein 220						protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	p.?(2)		endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CACCCCAAAGGTAGGTGGCCA	0.502000													17	79					0	0	0.010504	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79051880	79051880	+	Silent	SNP	C	C	T	rs1045121	by1000genomes	TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr15:79051880C>T	ENST00000388820.4	-	24	5154	c.4944G>A	c.(4942-4944)acG>acA	p.T1648T		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1648	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.T1648T(5)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GTAGGCGCAGCGTCTCGCAGA	0.697000													3	12					0	0	0.000602	0	0
RYR3	6263	broad.mit.edu	37	15	33936616	33936616	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr15:33936616G>T	ENST00000389232.4	+	28	3731	c.3661G>T	c.(3661-3663)Ggc>Tgc	p.G1221C	RYR3_ENST00000415757.3_Missense_Mutation_p.G1221C	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1221	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.G1221C(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCTCCAAGAGGGCTTTGAGCC	0.512000													9	19					0.00185496	0.00200322	0.001855	1	0
CSGALNACT2	55454	broad.mit.edu	37	10	43651103	43651103	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr10:43651103A>G	ENST00000374466.3	+	2	841	c.506A>G	c.(505-507)gAa>gGa	p.E169G	CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.E169G	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	169					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	p.E169G(1)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CATCCTGAAGAAAAGCCAGTT	0.408000													73	157					0	0	0.014410	0	0
OR8D1	283159	broad.mit.edu	37	11	124180094	124180094	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr11:124180094G>T	ENST00000357821.2	-	1	639	c.569C>A	c.(568-570)tCc>tAc	p.S190Y		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S190Y(1)		kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GTGTGTGTTGGAGCAGGAGAG	0.453000													19	57					2.21704e-12	3.06354e-12	0.002780	1	0
CUL9	23113	broad.mit.edu	37	6	43152288	43152288	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr6:43152288A>T	ENST00000252050.4	+	2	324	c.240A>T	c.(238-240)ttA>ttT	p.L80F	CUL9_ENST00000372647.2_Missense_Mutation_p.L80F|CUL9_ENST00000354495.3_Missense_Mutation_p.L80F	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	80					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	p.L80F(1)		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						CTGGGCTGTTAGGTGAGCGGG	0.577000													52	157					0	0	0.014410	0	0
PRPF31	26121	broad.mit.edu	37	19	54629929	54629929	+	Silent	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr19:54629929G>T	ENST00000321030.4	+	9	1231	c.882G>T	c.(880-882)ctG>ctT	p.L294L	PRPF31_ENST00000498612.1_3'UTR|PRPF31_ENST00000419967.1_Silent_p.L294L|PRPF31_ENST00000391755.1_Silent_p.L294L	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	294	Nop.				assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding	p.L294L(1)		breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CGGCCCGGCTGGTGGCCGCCA	0.627000													4	5					5.4927e-09	6.92856e-09	0.004482	1	0
OR5D14	219436	broad.mit.edu	37	11	55563362	55563362	+	Missense_Mutation	SNP	G	G	T	rs145501127	byFrequency	TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr11:55563362G>T	ENST00000335605.1	+	1	331	c.331G>T	c.(331-333)Gtg>Ttg	p.V111L		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V111L(1)		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)				CACTGCTGTGGTGACAGAGTC	0.493000													35	46					2.51541e-25	4.3448e-25	0.004878	1	0
ZNF98	148198	broad.mit.edu	37	19	22574549	22574549	+	Silent	SNP	G	G	C	rs74169609		TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr19:22574549G>C	ENST00000357774.5	-	4	1609	c.1488C>G	c.(1486-1488)ggC>ggG	p.G496G		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	496					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G496G(2)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TAAAAGCTTTGCCACATTCTT	0.393000													31	41					0	0	0.006230	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43823488	43823488	+	Nonsense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr12:43823488C>A	ENST00000389420.3	-	24	3420	c.3421G>T	c.(3421-3423)Gag>Tag	p.E1141*	ADAMTS20_ENST00000553158.1_Nonsense_Mutation_p.E1141*|ADAMTS20_ENST00000395541.2_Intron	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1141						proteinaceous extracellular matrix	zinc ion binding	p.E1141*(1)|p.A1141S(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AAAGCGGTCTCAAGTTTAGAA	0.338000													6	9					8.12818e-05	9.06777e-05	0.001984	1	0
SH3D19	152503	broad.mit.edu	37	4	152043243	152043243	+	Nonstop_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr4:152043243C>A	ENST00000409598.4	-	20	3471	c.2304G>T	c.(2302-2304)taG>taT	p.*768Y	SH3D19_ENST00000455740.1_Nonstop_Mutation_p.*768Y|SH3D19_ENST00000427414.2_Nonstop_Mutation_p.*732Y|SH3D19_ENST00000424281.1_Nonstop_Mutation_p.*732Y|SH3D19_ENST00000409252.2_Nonstop_Mutation_p.*791Y|SH3D19_ENST00000304527.4_Nonstop_Mutation_p.*791Y|SH3D19_ENST00000514152.1_Nonstop_Mutation_p.*768Y			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	0	SH3 5.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding	p.*788Y(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				AGCTTCTCCTCTAGCTGATCT	0.373000													65	88					6.26901e-30	1.12768e-29	0.014410	1	0
LRRC37B	114659	broad.mit.edu	37	17	30377039	30377039	+	Silent	SNP	A	A	G			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr17:30377039A>G	ENST00000327564.7	+	11	2836	c.2775A>G	c.(2773-2775)ccA>ccG	p.P925P	LRRC37B_ENST00000543378.2_Silent_p.P816P|LRRC37B_ENST00000341671.7_Silent_p.P898P|LRRC37B_ENST00000584368.1_Silent_p.P859P|LRRC37B_ENST00000394713.3_Silent_p.P847P			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	898						integral to membrane		p.P898P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				AAGAAGTTCCAGGAGATGACT	0.274000													27	55					0	0	0.010818	0	0
PLS3	5358	broad.mit.edu	37	X	114874743	114874743	+	Silent	SNP	T	T	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chrX:114874743T>A	ENST00000420625.2	+	9	1049	c.915T>A	c.(913-915)ctT>ctA	p.L305L	PLS3_ENST00000355899.3_Silent_p.L305L|PLS3_ENST00000537301.1_Silent_p.L292L|PLS3_ENST00000539310.1_Silent_p.L260L|PLS3_ENST00000289290.3_Silent_p.L269L	NM_001136025.3|NM_001172335.1	NP_001129497.1|NP_001165806.1	P13797	PLST_HUMAN	plastin 3	305	Actin-binding 1.|CH 2.					cytoplasm	actin binding|calcium ion binding	p.L305L(1)		NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						ATTTCCATCTTCTCAATCAAA	0.368000													45	96					0	0	0.014410	0	0
SMG1	23049	broad.mit.edu	37	16	18908270	18908270	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr16:18908270C>G	ENST00000446231.2	-	2	513	c.101G>C	c.(100-102)aGt>aCt	p.S34T	SMG1_ENST00000389467.3_Missense_Mutation_p.S34T|SMG1_ENST00000565224.1_Missense_Mutation_p.S8T			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	34	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S30T(1)|p.S34T(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GGCTGATGCACTATCAGTTCT	0.323000													3	4					0	0	0.009096	0	0
TACR3	6870	broad.mit.edu	37	4	104510895	104510895	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr4:104510895A>T	ENST00000304883.2	-	5	1482	c.1342T>A	c.(1342-1344)Tcc>Acc	p.S448T	RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	448						integral to plasma membrane	tachykinin receptor activity	p.S448T(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GAAGTGGCGGAGGCAGATTTG	0.473000													21	150					0	0	0.007291	0	0
FAN1	22909	broad.mit.edu	37	15	31222813	31222813	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr15:31222813G>A	ENST00000362065.4	+	13	3146	c.2855G>A	c.(2854-2856)cGa>cAa	p.R952Q	FAN1_ENST00000568145.1_3'UTR	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	952	VRR-NUC.				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	p.R952Q(1)		autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						GCTGACTTTCGACACTGTCGA	0.567000								Direct reversal of damage					4	83					0	0	0.009096	0	0
MTL5	9633	broad.mit.edu	37	11	68514725	68514725	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr11:68514725T>A	ENST00000443940.2	-	3	667	c.581A>T	c.(580-582)gAa>gTa	p.E194V	MTL5_ENST00000255087.5_Missense_Mutation_p.E194V|MTL5_ENST00000540869.1_5'UTR|MTL5_ENST00000544963.1_Missense_Mutation_p.E194V			Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	194					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding	p.E194V(1)		breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			ATCCTCTAGTTCCTGGGACGA	0.418000													43	146					0	0	0.010771	0	0
ERGIC2	51290	broad.mit.edu	37	12	29524531	29524531	+	Silent	SNP	C	C	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr12:29524531C>T	ENST00000360150.4	-	2	111	c.36G>A	c.(34-36)ttG>ttA	p.L12L		NM_016570.2	NP_057654.2	Q96RQ1	ERGI2_HUMAN	ERGIC and golgi 2	12					vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus		p.L12L(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)				Arsenic trioxide(DB01169)	ACTCTTTTACCAAACTTAAAG	0.373000													31	53					0	0	0.010818	0	0
CSMD2	114784	broad.mit.edu	37	1	34087803	34087803	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:34087803T>A	ENST00000373381.4	-	37	5967	c.5791A>T	c.(5791-5793)Agc>Tgc	p.S1931C	CSMD2_ENST00000373377.1_Missense_Mutation_p.S30C|CSMD2_ENST00000373380.1_Missense_Mutation_p.S804C|CSMD2_ENST00000373388.2_Missense_Mutation_p.S30C	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1891	Sushi 11.					integral to membrane|plasma membrane	protein binding	p.S1891C(1)		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)				GCAGATACGCTGATATCTGAG	0.512000													96	112					0	0	0.014410	0	0
DUSP27	92235	broad.mit.edu	37	1	167096318	167096318	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:167096318C>A	ENST00000361200.2	+	6	2116	c.1950C>A	c.(1948-1950)agC>agA	p.S650R	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.S650R|DUSP27_ENST00000443333.1_Missense_Mutation_p.S650R			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	650					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	p.S650R(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGGCGGACAGCTCCACGGCCA	0.637000													22	19					4.22769e-11	5.67426e-11	0.006320	1	0
LAMA2	3908	broad.mit.edu	37	6	129419336	129419336	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr6:129419336G>A	ENST00000421865.2	+	4	464	c.415G>A	c.(415-417)Gtg>Atg	p.V139M		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	139	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.V139M(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GATCGCGTATGTGATTGTGAA	0.413000													4	122					0	0	0.000602	0	0
STX16	8675	broad.mit.edu	37	20	57244382	57244382	+	Silent	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr20:57244382G>T	ENST00000371141.4	+	5	1153	c.429G>T	c.(427-429)ctG>ctT	p.L143L	STX16_ENST00000361830.3_Silent_p.L143L|STX16_ENST00000359617.4_Silent_p.L90L|STX16_ENST00000361770.5_Silent_p.L126L|STX16-NPEPL1_ENST00000530122.1_Silent_p.L143L|STX16_ENST00000371132.4_Silent_p.L122L|STX16_ENST00000355957.5_Silent_p.L126L|STX16_ENST00000358029.4_Silent_p.L139L|STX16_ENST00000496003.1_Intron	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	143					intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity	p.L122L(1)		breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			TGCAGGCCCTGCCGAGCCGGG	0.687000													16	20					7.26314e-15	1.06925e-14	0.007291	1	0
DNAH11	8701	broad.mit.edu	37	7	21827034	21827034	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr7:21827034C>A	ENST00000328843.6	+	61	9809	c.9778C>A	c.(9778-9780)Caa>Aaa	p.Q3260K	DNAH11_ENST00000409508.3_Missense_Mutation_p.Q3253K			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3260	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.Q3260K(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGATTTTTTGCAAGCATTAAT	0.343000									Kartagener syndrome				17	48					2.94398e-08	3.63809e-08	0.007413	1	0
TNR	7143	broad.mit.edu	37	1	175323529	175323529	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:175323529G>C	ENST00000367674.1	-	18	4088	c.3380C>G	c.(3379-3381)aCa>aGa	p.T1127R	TNR_ENST00000263525.2_Missense_Mutation_p.T1127R	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	1127	Fibronectin type-III 9.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.T1127R(1)		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)					TCCCTCACCTGTGGTGAAAGC	0.557000													7	57					0	0	0.001984	0	0
ADRA1D	146	broad.mit.edu	37	20	4228885	4228885	+	Silent	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr20:4228885G>T	ENST00000379453.4	-	1	836	c.720C>A	c.(718-720)ccC>ccA	p.P240P		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	240					cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity	p.P240P(1)		endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	GCTCGTCAGGGGGCACGGGCT	0.667000													4	5					0.00909568	0.00958436	0.009096	1	0
SYT4	6860	broad.mit.edu	37	18	40854165	40854165	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr18:40854165C>A	ENST00000255224.3	-	2	597	c.229G>T	c.(229-231)Gat>Tat	p.D77Y	SYT4_ENST00000590752.1_Missense_Mutation_p.D59Y|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	77						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	p.D77Y(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TCATTTTTATCATCTGCTCCA	0.373000													25	101					3.28513e-13	4.67765e-13	0.003954	1	0
ILF3	3609	broad.mit.edu	37	19	10790525	10790525	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr19:10790525A>G	ENST00000449870.1	+	8	1098	c.781A>G	c.(781-783)Acg>Gcg	p.T261A	ILF3_ENST00000318511.3_Missense_Mutation_p.T261A|ILF3_ENST00000250241.8_Missense_Mutation_p.T261A|ILF3_ENST00000592763.1_Missense_Mutation_p.T261A|ILF3_ENST00000590261.1_Missense_Mutation_p.T261A|ILF3_ENST00000420083.1_Missense_Mutation_p.T261A|ILF3_ENST00000407004.3_Missense_Mutation_p.T261A|ILF3_ENST00000589998.1_Missense_Mutation_p.T261A|ILF3_ENST00000588657.1_Missense_Mutation_p.T261A	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	261	DZF.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	p.T261A(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			ATCCATTGGCACGGCCAACAG	0.637000													15	23					0	0	0.007413	0	0
TIAM2	26230	broad.mit.edu	37	6	155532427	155532427	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr6:155532427G>C	ENST00000461783.3	+	17	4427	c.3154G>C	c.(3154-3156)Gag>Cag	p.E1052Q	TIAM2_ENST00000367174.2_Missense_Mutation_p.E428Q|TIAM2_ENST00000456877.2_Missense_Mutation_p.E364Q|TIAM2_ENST00000528391.2_Missense_Mutation_p.E388Q|TIAM2_ENST00000456144.1_Missense_Mutation_p.E1052Q|TIAM2_ENST00000529824.2_Missense_Mutation_p.E1052Q|TIAM2_ENST00000360366.4_Missense_Mutation_p.E1076Q|TIAM2_ENST00000318981.5_Missense_Mutation_p.E1052Q			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1052					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	p.E1052Q(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GGAGAAAATGGAGCAGACATT	0.483000													11	25					0	0	0.013537	0	0
DMXL1	1657	broad.mit.edu	37	5	118485771	118485771	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr5:118485771G>T	ENST00000311085.8	+	18	4329	c.4249G>T	c.(4249-4251)Gat>Tat	p.D1417Y	DMXL1_ENST00000539542.1_Missense_Mutation_p.D1417Y	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1417								p.D1417Y(1)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AGCAGATGATGATAGCTGTTA	0.368000													25	100					1.42536e-11	1.93874e-11	0.004656	1	0
TPH2	121278	broad.mit.edu	37	12	72332773	72332773	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr12:72332773C>G	ENST00000333850.3	+	1	148	c.7C>G	c.(7-9)Cca>Gca	p.P3A	TPH2_ENST00000546576.1_3'UTR	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	3					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	p.P3A(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	ATCCATGCAGCCAGCAATGAT	0.542000											OREG0021996	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	69					0	0	0.003330	0	0
SNORD114-3	767579	broad.mit.edu	37	14	101419754	101419754	+	RNA	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr14:101419754G>T	ENST00000364969.1	+	0	69					NR_003195.1																						GAAACTCTGAGGTCCAACAGA	0.378000													20	74					0.000295444	0.000326599	0.014323	1	0
ZPLD1	131368	broad.mit.edu	37	3	102181147	102181147	+	Nonsense_Mutation	SNP	T	T	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr3:102181147T>A	ENST00000306176.1	+	6	753	c.653T>A	c.(652-654)tTa>tAa	p.L218*	ZPLD1_ENST00000466937.1_Nonsense_Mutation_p.L202*|ZPLD1_ENST00000491959.1_Nonsense_Mutation_p.L202*	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	202	ZP.					integral to membrane		p.L218*(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						AACCAGCAGTTAATTATCCCC	0.338000													18	50					0	0	0.010504	0	0
DUSP27	92235	broad.mit.edu	37	1	167088687	167088687	+	Silent	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:167088687G>T	ENST00000361200.2	+	5	805	c.639G>T	c.(637-639)gcG>gcT	p.A213A	DUSP27_ENST00000271385.5_Silent_p.A213A|DUSP27_ENST00000443333.1_Silent_p.A213A			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	213	Tyrosine-protein phosphatase.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	p.A213A(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TGGATGAGGCGCTGCTGACTT	0.532000													9	46					2.74318e-10	3.57908e-10	0.006214	1	0
C7orf55-LUC7L2	100996928	broad.mit.edu	37	7	139107013	139107013	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr7:139107013G>A	ENST00000354926.4	+	10	1460	c.1106G>A	c.(1105-1107)cGg>cAg	p.R369Q	C7orf55-LUC7L2_ENST00000482860.1_3'UTR|C7orf55-LUC7L2_ENST00000263545.6_Missense_Mutation_p.R368Q|C7orf55-LUC7L2_ENST00000541170.3_Missense_Mutation_p.R366Q|LUC7L2_ENST00000541515.3_Missense_Mutation_p.R435Q	NM_016019.3	NP_057103.2												p.R369Q(1)									GATAAGAAGCGGTCCTATGAG	0.463000													65	152					0	0	0.014410	0	0
ITCH	83737	broad.mit.edu	37	20	33028121	33028121	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr20:33028121C>T	ENST00000374864.4	+	9	1054	c.841C>T	c.(841-843)Cct>Tct	p.P281S	ITCH_ENST00000535650.1_Missense_Mutation_p.P171S|ITCH_ENST00000262650.6_Missense_Mutation_p.P322S	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	322					apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity	p.P281S(1)		NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						GCCATTAAATCCTGTAACTCA	0.378000													21	56					0	0	0.003330	0	0
CARD14	79092	broad.mit.edu	37	17	78163574	78163574	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr17:78163574A>G	ENST00000573882.1	+	8	1402	c.866A>G	c.(865-867)cAg>cGg	p.Q289R	CARD14_ENST00000344227.2_Missense_Mutation_p.Q289R|CARD14_ENST00000392434.2_Missense_Mutation_p.Q52R|CARD14_ENST00000570421.1_Missense_Mutation_p.Q289R|CARD14_ENST00000573754.1_3'UTR			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	289					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding	p.Q289R(1)|p.Q52R(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			ATTCTGGAGCAGAGCCTGGAC	0.682000													12	26					0	0	0.003163	0	0
STON1	11037	broad.mit.edu	37	2	48808908	48808908	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr2:48808908G>T	ENST00000309835.3	+	1	1146	c.1136G>T	c.(1135-1137)gGg>gTg	p.G379V	STON1_ENST00000406226.1_Missense_Mutation_p.G379V|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.G379V|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.G379V|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.G379V|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.G379V|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.G379V|STON1_ENST00000404752.1_Missense_Mutation_p.G379V					stonin 1									p.G379V(2)		NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTGAAGTTGGGGTCCACATCG	0.423000													26	81					2.05212e-20	3.354e-20	0.005524	1	0
SLC6A18	348932	broad.mit.edu	37	5	1246128	1246128	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr5:1246128G>C	ENST00000324642.3	+	12	1945	c.1822G>C	c.(1822-1824)Gac>Cac	p.D608H		NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	608					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.D608H(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCCAGACACGGACATGCGCCC	0.736000													6	18					0	0	0.003080	0	0
GK5	256356	broad.mit.edu	37	3	141904809	141904809	+	Nonsense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr3:141904809C>A	ENST00000392993.2	-	9	929	c.778G>T	c.(778-780)Gaa>Taa	p.E260*	GK5_ENST00000544571.1_Nonsense_Mutation_p.E260*	NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	260					glycerol metabolic process		ATP binding|glycerol kinase activity	p.E260*(1)		kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						AATATCTCTTCATCCACTGAT	0.299000													21	78					6.36457e-07	7.61744e-07	0.003954	1	0
MEI1	150365	broad.mit.edu	37	22	42191478	42191478	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr22:42191478G>A	ENST00000401548.3	+	29	3638	c.3598G>A	c.(3598-3600)Gtg>Atg	p.V1200M	MEI1_ENST00000400107.1_Missense_Mutation_p.V533M|MEI1_ENST00000476893.1_3'UTR|MEI1_ENST00000300398.4_Intron	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	1200							binding	p.V1206M(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TCTGCAAGGTGTGGCTTTGGC	0.577000													43	32					0	0	0.013114	0	0
PRMT6	55170	broad.mit.edu	37	1	107600116	107600116	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:107600116G>T	ENST00000361318.5	+	1	850	c.602G>T	c.(601-603)cGc>cTc	p.R201L	PRMT6_ENST00000370078.1_Missense_Mutation_p.R260L	NM_018137.2	NP_060607.2	Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	260					base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	p.R201L(1)		biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		GAGCTCTCCCGCGCCGGCTTG	0.677000													24	33					2.48779e-11	3.36129e-11	0.005443	1	0
OR1D5	8386	broad.mit.edu	37	17	2966186	2966186	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr17:2966186G>T	ENST00000575751.1	-	1	715	c.716C>A	c.(715-717)tCt>tAt	p.S239Y		NM_014566.1	NP_055381.1	P58170	OR1D5_HUMAN	olfactory receptor, family 1, subfamily D, member 5	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S239Y(2)		kidney(1)|lung(10)	11						GGCACAGGTAGAGAAGGTTTT	0.493000													26	31					9.78485e-24	1.65716e-23	0.013726	1	0
ADAMTS16	170690	broad.mit.edu	37	5	5191879	5191879	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr5:5191879C>A	ENST00000274181.7	+	8	1427	c.1289C>A	c.(1288-1290)aCc>aAc	p.T430N	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.T430N	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	430	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.T430K(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CTGGCCTTCACCATTGCCCAT	0.443000													14	121					9.16793e-09	1.1493e-08	0.004990	1	0
BACH1	571	broad.mit.edu	37	21	30698503	30698503	+	Nonsense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr21:30698503G>T	ENST00000399921.1	+	3	601	c.358G>T	c.(358-360)Gaa>Taa	p.E120*	BACH1_ENST00000286800.3_Nonsense_Mutation_p.E120*	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	120						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E120*(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						TAATATTGAGGAATCCTGCTT	0.353000													39	38					1.22674e-20	2.0104e-20	0.008740	1	0
OSR2	116039	broad.mit.edu	37	8	99961558	99961558	+	Silent	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr8:99961558G>T	ENST00000297565.4	+	2	874	c.378G>T	c.(376-378)acG>acT	p.T126T	OSR2_ENST00000523368.1_Silent_p.T126T|OSR2_ENST00000435298.2_Silent_p.T126T|OSR2_ENST00000522510.1_Silent_p.T126T|OSR2_ENST00000457907.2_Silent_p.T247T	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	126					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding	p.T126T(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			TGGCTGCCACGCAAGAGGATC	0.607000													23	121					3.69857e-22	6.1609e-22	0.008361	1	0
TRIM42	287015	broad.mit.edu	37	3	140397351	140397351	+	Missense_Mutation	SNP	C	C	T	rs139146415		TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr3:140397351C>T	ENST00000286349.3	+	1	471	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	94	Cys-rich.					intracellular	zinc ion binding	p.R94C(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CTATGAGAGCCGCTGCTGCCG	0.562000													13	15					0	0	0.005443	0	0
MSH2	4436	broad.mit.edu	37	2	47690198	47690198	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr2:47690198C>T	ENST00000406134.1	+	9	1477	c.1415C>T	c.(1414-1416)cCt>cTt	p.P472L	MSH2_ENST00000543555.1_Missense_Mutation_p.P406L|MSH2_ENST00000233146.2_Missense_Mutation_p.P472L			P43246	MSH2_HUMAN	mutS homolog 2	472					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(2)|p.P472L(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTTGTAAAACCTTCATTTGAT	0.328000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				5	121					0	0	0.001168	0	0
NAV3	89795	broad.mit.edu	37	12	78400408	78400408	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr12:78400408G>T	ENST00000397909.2	+	8	1263	c.1090G>T	c.(1090-1092)Gac>Tac	p.D364Y	NAV3_ENST00000266692.7_Missense_Mutation_p.D364Y|NAV3_ENST00000536525.2_Missense_Mutation_p.D364Y|NAV3_ENST00000228327.6_Missense_Mutation_p.D364Y			Q8IVL0	NAV3_HUMAN	neuron navigator 3	364						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.D364Y(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACCATCTTCAGACAGACTGAA	0.517000										HNSCC(70;0.22)			27	39					3.73988e-18	5.9061e-18	0.006320	1	0
VPS41	27072	broad.mit.edu	37	7	38768381	38768381	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr7:38768381C>G	ENST00000310301.4	-	26	2324	c.2270G>C	c.(2269-2271)cGt>cCt	p.R757P	VPS41_ENST00000395969.2_Missense_Mutation_p.R732P	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	757					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	p.R757P(1)		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						GCAGCCTTCACGAAGCAGAAT	0.413000													47	98					0	0	0.014410	0	0
BAI3	577	broad.mit.edu	37	6	69666701	69666701	+	Splice_Site	SNP	G	G	C			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr6:69666701G>C	ENST00000370598.1	+	8	2346	c.1525_splice	c.e8+1	p.A509_splice		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	509					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A509P(1)		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)				GCGATGCCCTGGTGAGAATGA	0.413000													7	89					0	0	0.001984	0	0
SRMS	6725	broad.mit.edu	37	20	62174827	62174827	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr20:62174827G>T	ENST00000217188.1	-	3	525	c.485C>A	c.(484-486)gCc>gAc	p.A162D		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	162	SH2.						ATP binding|non-membrane spanning protein tyrosine kinase activity	p.A162D(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CTTGGCCTGGGCCCGGACTAG	0.657000													26	68					2.12542e-12	2.95035e-12	0.006320	1	0
ABCB1	5243	broad.mit.edu	37	7	87168622	87168622	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr7:87168622G>A	ENST00000265724.3	-	20	2776	c.2359C>T	c.(2359-2361)Cgg>Tgg	p.R787W	ABCB1_ENST00000543898.1_Missense_Mutation_p.R723W	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	787	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	p.R787W(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TATCGGAGCCGCTTGGTGAGG	0.522000													4	62					0	0	0.009096	0	0
C19orf47	126526	broad.mit.edu	37	19	40842091	40842091	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr19:40842091T>A	ENST00000582783.1	-	4	271	c.259A>T	c.(259-261)Atg>Ttg	p.M87L	C19orf47_ENST00000392035.2_Missense_Mutation_p.M20L	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	87								p.M87L(1)|p.M20L(1)		endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			AGCTCATTCATTATCTCCTTA	0.587000													24	46					0	0	0.005443	0	0
ZAN	7455	broad.mit.edu	37	7	100349612	100349612	+	RNA	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr7:100349612C>A	ENST00000542585.1	+	0	2032				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.I628I(4)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AACCCACCATCCTCACAGAAA	0.483000													12	53					1.49906e-05	1.70043e-05	0.002450	1	0
RP1L1	94137	broad.mit.edu	37	8	10470190	10470190	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr8:10470190G>T	ENST00000382483.3	-	4	1641	c.1418C>A	c.(1417-1419)cCc>cAc	p.P473H		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	473					intracellular signal transduction			p.P473Q(1)		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)		CGGGGTCCTGGGGCAGCAGGA	0.711000													21	36					2.61193e-14	3.79917e-14	0.009535	1	0
ZNF257	113835	broad.mit.edu	37	19	22270984	22270984	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr19:22270984G>T	ENST00000594947.1	+	4	576	c.432G>T	c.(430-432)atG>atT	p.M144I	ZNF257_ENST00000600162.1_3'UTR	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.M144I(1)		haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGAGCAAAATGTATCAATGTG	0.313000													23	23					5.35047e-06	6.17284e-06	0.003330	1	0
C19orf45	374877	broad.mit.edu	37	19	7566259	7566259	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr19:7566259A>T	ENST00000361664.2	+	2	692	c.551A>T	c.(550-552)cAg>cTg	p.Q184L		NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	184								p.Q170L(1)		endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						GCGCGCCCGCAGCCTCGCGCG	0.672000													7	18					0	0	0.008291	0	0
ITGA8	8516	broad.mit.edu	37	10	15713616	15713616	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr10:15713616C>T	ENST00000378076.3	-	8	1186	c.833G>A	c.(832-834)gGg>gAg	p.G278E		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	278					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.G278E(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CTGAGAATCCCCAGTAAACTC	0.338000													6	55					0	0	0.003080	0	0
PTPRA	5786	broad.mit.edu	37	20	3003389	3003389	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr20:3003389G>T	ENST00000216877.6	+	15	1756	c.1356G>T	c.(1354-1356)atG>atT	p.M452I	PTPRA_ENST00000356147.3_Missense_Mutation_p.M452I|PTPRA_ENST00000425918.2_Missense_Mutation_p.M472I|PTPRA_ENST00000399903.2_Missense_Mutation_p.M461I|PTPRA_ENST00000358719.4_Missense_Mutation_p.M317I|PTPRA_ENST00000318266.5_Missense_Mutation_p.M452I|PTPRA_ENST00000380393.3_Missense_Mutation_p.M461I	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	461	Tyrosine-protein phosphatase 1.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.M461I(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TGCTGGACATGATGCATACAG	0.562000													4	80					0.00024832	0.000275508	0.009096	1	0
AGAP1	116987	broad.mit.edu	37	2	236949415	236949415	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr2:236949415C>G	ENST00000409538.1	+	14	2953	c.2457C>G	c.(2455-2457)agC>agG	p.S819R	AGAP1_ENST00000336665.5_Missense_Mutation_p.S554R|AGAP1_ENST00000304032.7_Missense_Mutation_p.S607R|AGAP1_ENST00000428334.2_Missense_Mutation_p.S446R			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	607					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	p.S607R(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CGAGCCAGAGCGAGGCCATGG	0.597000													21	28					0	0	0.002780	0	0
MPO	4353	broad.mit.edu	37	17	56355316	56355316	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr17:56355316T>A	ENST00000340482.3	-	6	1348	c.1172A>T	c.(1171-1173)cAg>cTg	p.Q391L	MPO_ENST00000578493.1_5'UTR|MPO_ENST00000225275.3_Missense_Mutation_p.Q359L			P05164	PERM_HUMAN	myeloperoxidase	359					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	p.Q359L(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	CAGCCCCAGCTGGTTGGACAT	0.637000													27	44					0	0	0.005443	0	0
LHX4	89884	broad.mit.edu	37	1	180243319	180243319	+	Splice_Site	SNP	G	G	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:180243319G>A	ENST00000263726.2	+	6	1022		c.e6-1		RP5-1180C10.2_ENST00000440959.2_RNA|RP5-1180C10.2_ENST00000415414.1_RNA	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4							nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.?(1)		endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						TTTGTCCACAGAGGATCAAAT	0.488000													45	121					0	0	0.014410	0	0
KCNB1	3745	broad.mit.edu	37	20	47990041	47990041	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr20:47990041G>C	ENST00000371741.4	-	2	2222	c.2056C>G	c.(2056-2058)Ccc>Gcc	p.P686A		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	686					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.P686A(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCTAGAACGGGGAGGAGTGGA	0.557000													10	73					0	0	0.006214	0	0
DSG1	1828	broad.mit.edu	37	18	28911745	28911745	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr18:28911745G>T	ENST00000257192.4	+	6	811	c.599G>T	c.(598-600)aGa>aTa	p.R200I		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	200	Cadherin 2.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	p.R200I(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AAGATTATAAGACAAGAACCT	0.323000													30	88					1.39806e-14	2.04824e-14	0.008361	1	0
PTPRU	10076	broad.mit.edu	37	1	29638171	29638171	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:29638171A>G	ENST00000373779.3	+	21	3101	c.2972A>G	c.(2971-2973)tAc>tGc	p.Y991C	PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000428026.2_Missense_Mutation_p.Y988C|PTPRU_ENST00000356870.3_Missense_Mutation_p.Y997C|PTPRU_ENST00000345512.3_Missense_Mutation_p.Y1001C|PTPRU_ENST00000323874.8_Missense_Mutation_p.Y997C|PTPRU_ENST00000460170.2_Missense_Mutation_p.Y997C	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1001	Tyrosine-protein phosphatase 1.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	p.Y997C(2)|p.Y1001C(1)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TGCTCACGGTACTGGCCGGAG	0.627000													27	109					0	0	0.003954	0	0
FSTL5	56884	broad.mit.edu	37	4	162307510	162307510	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr4:162307510A>T	ENST00000306100.5	-	16	2369	c.1933T>A	c.(1933-1935)Tat>Aat	p.Y645N	FSTL5_ENST00000427802.2_Missense_Mutation_p.Y635N|FSTL5_ENST00000379164.4_Missense_Mutation_p.Y644N|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000536695.1_Missense_Mutation_p.Y644N	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	645						extracellular region	calcium ion binding	p.Y645N(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		ACGCACTTATAGTCCTTCAAG	0.403000													17	53					0	0	0.004990	0	0
RAP1GDS1	5910	broad.mit.edu	37	4	99339942	99339942	+	Splice_Site	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr4:99339942G>T	ENST00000408927.3	+	10	1287	c.1174_splice	c.e10+1	p.V392_splice	RAP1GDS1_ENST00000408900.3_Splice_Site_p.V343_splice|RAP1GDS1_ENST00000453712.2_Splice_Site_p.V393_splice|RAP1GDS1_ENST00000339360.5_Splice_Site_p.V393_splice|RAP1GDS1_ENST00000264572.7_Splice_Site_p.V301_splice|RAP1GDS1_ENST00000380158.4_Splice_Site_p.V344_splice	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	392							binding|GTPase activator activity	p.V393F(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		GGCCATTCCAGGTAAGACTTA	0.393000			T	NUP98	T-ALL								8	31					1.76689e-08	2.20138e-08	0.006214	1	0
ZFAT	57623	broad.mit.edu	37	8	135614385	135614385	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr8:135614385T>A	ENST00000520727.1	-	7	1840	c.1541A>T	c.(1540-1542)cAg>cTg	p.Q514L	ZFAT_ENST00000520356.1_Missense_Mutation_p.Q514L|ZFAT_ENST00000429442.2_Missense_Mutation_p.Q514L|ZFAT_ENST00000520214.1_Missense_Mutation_p.Q514L|ZFAT_ENST00000377838.3_Missense_Mutation_p.Q526L|ZFAT_ENST00000523399.1_Missense_Mutation_p.Q464L	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	526					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	p.Q514L(1)|p.Q526L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			ATTCACGCCCTGGAGGGCAAA	0.627000													7	24					0	0	0.003080	0	0
LHFPL4	375323	broad.mit.edu	37	3	9594086	9594086	+	Missense_Mutation	SNP	T	T	C	rs76516178		TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr3:9594086T>C	ENST00000287585.6	-	2	563	c.278A>G	c.(277-279)aAg>aGg	p.K93R		NM_198560.2	NP_940962.1	Q7Z7J7	LHPL4_HUMAN	lipoma HMGIC fusion partner-like 4	93						integral to membrane		p.K93R(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					GGCGGCCGCCTTGAAGGCGCT	0.632000													31	28					0	0	0.010818	0	0
DIEXF	27042	broad.mit.edu	37	1	210006653	210006653	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:210006653A>T	ENST00000491415.2	+	4	569	c.512A>T	c.(511-513)aAt>aTt	p.N171I		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	171	Glu-rich.				multicellular organismal development	nucleus		p.N171I(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						CTGGAAACCAATTTTCTGGAA	0.463000													4	174					0	0	0.009096	0	0
HTR5A	3361	broad.mit.edu	37	7	154876017	154876017	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr7:154876017G>T	ENST00000287907.2	+	2	1470	c.894G>T	c.(892-894)tgG>tgT	p.W298C	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	298						integral to plasma membrane	serotonin receptor activity	p.W298C(2)|p.W298*(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TGCTCTGCTGGATCCCCTTCT	0.607000													7	138					2.17888e-05	2.45781e-05	0.006214	1	0
ZNF676	163223	broad.mit.edu	37	19	22363524	22363524	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr19:22363524G>A	ENST00000397121.2	-	3	1312	c.995C>T	c.(994-996)gCt>gTt	p.A332V		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	332					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A332V(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTTCTCTCCAGCATGAATTCT	0.408000													8	110					0	0	0.004007	0	0
ZMYND8	23613	broad.mit.edu	37	20	45920619	45920619	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr20:45920619T>A	ENST00000311275.7	-	6	774	c.521A>T	c.(520-522)cAg>cTg	p.Q174L	ZMYND8_ENST00000540497.1_Missense_Mutation_p.Q169L|ZMYND8_ENST00000396281.4_Missense_Mutation_p.Q174L|ZMYND8_ENST00000355972.4_Missense_Mutation_p.Q174L|ZMYND8_ENST00000461685.1_Missense_Mutation_p.Q194L|ZMYND8_ENST00000352431.2_Missense_Mutation_p.Q194L|ZMYND8_ENST00000372023.3_Missense_Mutation_p.Q169L|ZMYND8_ENST00000262975.4_Missense_Mutation_p.Q174L|ZMYND8_ENST00000360911.3_Missense_Mutation_p.Q169L|ZMYND8_ENST00000458360.2_Missense_Mutation_p.Q169L|ZMYND8_ENST00000536340.1_Missense_Mutation_p.Q201L|ZMYND8_ENST00000446994.2_Missense_Mutation_p.Q111L|ZMYND8_ENST00000471951.2_Missense_Mutation_p.Q194L|ZMYND8_ENST00000468376.2_5'UTR			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	174	Bromo.						protein binding|zinc ion binding	p.Q194L(1)		NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			AACGGGCTTCTGGAATGCATC	0.423000													7	53					0	0	0.003080	0	0
TRIM35	23087	broad.mit.edu	37	8	27168490	27168490	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr8:27168490T>A	ENST00000305364.4	-	1	346	c.263A>T	c.(262-264)gAg>gTg	p.E88V	TRIM35_ENST00000521253.1_Missense_Mutation_p.E88V	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	88					apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding	p.E88V(1)		breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		GCGCGCGCCCTCGGCCTCCTC	0.682000													8	9					0	0	0.006214	0	0
PHLPP2	23035	broad.mit.edu	37	16	71715787	71715787	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr16:71715787T>A	ENST00000393524.2	-	5	1490	c.757A>T	c.(757-759)Acc>Tcc	p.T253S	PHLPP2_ENST00000356272.3_Missense_Mutation_p.T253S|PHLPP2_ENST00000567016.1_Missense_Mutation_p.T288S|PHLPP2_ENST00000360429.3_Missense_Mutation_p.T253S|PHLPP2_ENST00000568954.1_Missense_Mutation_p.T253S			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	253						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	p.T253S(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						AGATCCACGGTACTGATTCGC	0.458000													17	101					0	0	0.010504	0	0
COL4A4	1286	broad.mit.edu	37	2	227920787	227920787	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr2:227920787C>A	ENST00000396625.3	-	30	2797	c.2590G>T	c.(2590-2592)Ggg>Tgg	p.G864W	COL4A4_ENST00000329662.7_Missense_Mutation_p.G864W	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	864	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	p.G864W(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCAGCTGGCCCGGGAGGCCCC	0.622000													25	51					4.59853e-10	5.97416e-10	0.005443	1	0
NTNG1	22854	broad.mit.edu	37	1	107867132	107867132	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:107867132C>A	ENST00000370067.1	+	3	1102	c.475C>A	c.(475-477)Caa>Aaa	p.Q159K	NTNG1_ENST00000370071.2_Missense_Mutation_p.Q159K|NTNG1_ENST00000370073.2_Missense_Mutation_p.Q159K|NTNG1_ENST00000370072.3_Missense_Mutation_p.Q159K|NTNG1_ENST00000542803.1_Missense_Mutation_p.Q159K|NTNG1_ENST00000370074.4_Missense_Mutation_p.Q159K|NTNG1_ENST00000370065.1_Missense_Mutation_p.Q159K|NTNG1_ENST00000370066.1_Missense_Mutation_p.Q159K|NTNG1_ENST00000370068.1_Missense_Mutation_p.Q159K|NTNG1_ENST00000370070.2_Missense_Mutation_p.Q159K|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370061.3_Missense_Mutation_p.Q159K			Q9Y2I2	NTNG1_HUMAN	netrin G1	159	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding	p.Q159K(3)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		GCGTCCAGACCAAATGATCCT	0.443000													45	99					6.08268e-21	1.00224e-20	0.014410	1	0
ZNF668	79759	broad.mit.edu	37	16	31072581	31072581	+	Silent	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr16:31072581C>A	ENST00000538906.1	-	3	2452	c.1668G>T	c.(1666-1668)cgG>cgT	p.R556R	ZNF668_ENST00000300849.4_Silent_p.R556R|ZNF668_ENST00000394983.2_Silent_p.R556R|ZNF668_ENST00000426488.2_Silent_p.R579R|ZNF668_ENST00000539836.3_Silent_p.R579R|ZNF668_ENST00000535577.1_Silent_p.R556R	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN	zinc finger protein 668	556			R -> Q (in a breast cancer sample; somatic mutation).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R556R(1)|p.R579R(1)		breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCAGCCCAGCCCGGTCAGAGA	0.652000													43	78					1.47197e-15	2.21524e-15	0.007835	1	0
TMEM123	114908	broad.mit.edu	37	11	102323343	102323343	+	Silent	SNP	G	G	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr11:102323343G>A	ENST00000398136.2	-	1	432	c.12C>T	c.(10-12)ggC>ggT	p.G4G	TMEM123_ENST00000525577.1_Intron|TMEM123_ENST00000361236.3_Silent_p.G4G	NM_052932.2	NP_443164.2	Q8N131	PORIM_HUMAN	transmembrane protein 123	4					oncosis	external side of plasma membrane|integral to membrane	receptor activity	p.G4G(1)		breast(3)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)		CACCTCGCGCGCCGAGTCCCA	0.736000													4	7					0	0	0.001168	0	0
CYP1A1	1543	broad.mit.edu	37	15	75013543	75013543	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr15:75013543T>C	ENST00000379727.3	-	5	1361	c.1163A>G	c.(1162-1164)cAc>cGc	p.H388R	CYP1A1_ENST00000564596.1_Missense_Mutation_p.H127R|CYP1A1_ENST00000395049.4_Missense_Mutation_p.H388R|CYP1A1_ENST00000395048.2_Missense_Mutation_p.H388R|CYP1A1_ENST00000567032.1_Missense_Mutation_p.H388R			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	388					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity	p.H388R(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	GCCTTACCTGTGGGGGATGGT	0.587000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				48	40					0	0	0.014410	0	0
UNC45B	146862	broad.mit.edu	37	17	33495370	33495370	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr17:33495370G>T	ENST00000268876.5	+	10	1539	c.1442G>T	c.(1441-1443)cGc>cTc	p.R481L	UNC45B_ENST00000433649.1_Missense_Mutation_p.R481L|UNC45B_ENST00000591048.1_Missense_Mutation_p.R481L|UNC45B_ENST00000394570.2_Missense_Mutation_p.R481L|UNC45B_ENST00000378449.1_Missense_Mutation_p.R481L	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	481					cell differentiation|muscle organ development	cytosol	binding	p.R481L(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				ATCAAGATCCGCACACTGGTG	0.537000													14	23					2.32078e-09	2.97687e-09	0.003163	1	0
DGKA	1606	broad.mit.edu	37	12	56347165	56347165	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr12:56347165G>A	ENST00000331886.5	+	23	2549	c.2095G>A	c.(2095-2097)Gga>Aga	p.G699R	DGKA_ENST00000394147.1_Missense_Mutation_p.G699R|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Missense_Mutation_p.G699R	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	699				G -> V (in Ref. 1; CAA44396).	activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	p.G699*(1)|p.G699R(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	GCAAATTGACGGAGAACCCTG	0.473000													6	394					0	0	0.001168	0	0
PCDHA10	56139	broad.mit.edu	37	5	140237760	140237760	+	Silent	SNP	G	G	C			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr5:140237760G>C	ENST00000307360.5	+	1	2127	c.2127G>C	c.(2125-2127)ctG>ctC	p.L709L	PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1												p.L709L(1)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGCTTGCTGGTGCTCACGC	0.682000													30	25					0	0	0.010818	0	0
EPHB1	2047	broad.mit.edu	37	3	134920490	134920490	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr3:134920490C>A	ENST00000398015.3	+	12	2675	c.2305C>A	c.(2305-2307)Ctc>Atc	p.L769I	EPHB1_ENST00000493838.1_Missense_Mutation_p.L330I	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	769	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.L769I(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CTCCCGCTACCTCCAGGATGA	0.522000													9	86					2.17888e-05	2.45781e-05	0.006214	1	0
WDHD1	11169	broad.mit.edu	37	14	55475401	55475401	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr14:55475401G>T	ENST00000360586.3	-	5	443	c.378C>A	c.(376-378)agC>agA	p.S126R	WDHD1_ENST00000421192.1_Missense_Mutation_p.S3R|WDHD1_ENST00000420358.2_Missense_Mutation_p.S3R	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	126						cytoplasm|nucleoplasm	DNA binding	p.S126R(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						TCTGTTGGCTGCTATCCATCA	0.353000													37	71					4.92203e-23	8.26683e-23	0.006230	1	0
FOLH1B	219595	broad.mit.edu	37	11	89431852	89431852	+	RNA	SNP	T	T	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr11:89431852T>A	ENST00000532352.1	+	0	2134							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						ATTTTAAAATTGGTATATTTG	0.259000													6	7					0	0	0.001168	0	0
PLXNA4	91584	broad.mit.edu	37	7	131815270	131815270	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr7:131815270G>T	ENST00000359827.3	-	32	6615	c.5653C>A	c.(5653-5655)Caa>Aaa	p.Q1885K	PLXNA4_ENST00000321063.4_Missense_Mutation_p.Q1885K			Q9HCM2	PLXA4_HUMAN	plexin A4	1885						integral to membrane|intracellular|plasma membrane		p.Q1885K(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GTTATGACTTGTTCTAGTTTG	0.532000													23	71					2.39556e-15	3.5963e-15	0.002780	1	0
BTAF1	9044	broad.mit.edu	37	10	93778686	93778686	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr10:93778686G>C	ENST00000265990.6	+	34	5165	c.4857G>C	c.(4855-4857)ttG>ttC	p.L1619F	BTAF1_ENST00000544642.1_Missense_Mutation_p.L447F	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1619					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	p.L1619F(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TCTCAGCTTTGAAACAAGTAT	0.353000													4	132					0	0	0.000602	0	0
CFH	3075	broad.mit.edu	37	1	196646761	196646761	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:196646761G>C	ENST00000367429.4	+	5	823	c.583G>C	c.(583-585)Gat>Cat	p.D195H	CFH_ENST00000359637.2_Intron|CFH_ENST00000439155.2_Missense_Mutation_p.D195H	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	195	Sushi 3.				complement activation, alternative pathway	extracellular space		p.D195H(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTGTTCAGACGATGGTTTTTG	0.343000													71	252					0	0	0.014410	0	0
LTBP2	4053	broad.mit.edu	37	14	75078484	75078484	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr14:75078484C>A	ENST00000261978.4	-	1	550	c.164G>T	c.(163-165)cGc>cTc	p.R55L	LTBP2_ENST00000556690.1_Missense_Mutation_p.R55L|LTBP2_ENST00000557425.1_Intron	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	55					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	p.R55L(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GCCCCCAGGGCGCCGCAGTCG	0.706000													6	7					5.18039e-06	5.98798e-06	0.003080	1	0
ZNF793	390927	broad.mit.edu	37	19	38028480	38028480	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr19:38028480G>T	ENST00000445217.1	+	4	955	c.920G>T	c.(919-921)gGa>gTa	p.G307V	ZNF793_ENST00000587143.1_Missense_Mutation_p.G307V|ZNF793_ENST00000542455.1_Missense_Mutation_p.G307V|ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000588578.1_3'UTR			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	307					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G307V(1)		kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACACACACAGGAGAGAGACCC	0.453000													16	33					2.35188e-11	3.18473e-11	0.006122	1	0
RPL10L	140801	broad.mit.edu	37	14	47120296	47120296	+	Nonstop_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr14:47120296C>A	ENST00000298283.3	-	1	732	c.644G>T	c.(643-645)tGa>tTa	p.*215L		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	0					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	p.*215L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CCAAAACCTTCATGAGTGCAG	0.458000													30	29					2.4375e-19	3.94149e-19	0.007291	1	0
ZC3H13	23091	broad.mit.edu	37	13	46559510	46559510	+	Nonsense_Mutation	SNP	T	T	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr13:46559510T>A	ENST00000242848.4	-	10	1990	c.1642A>T	c.(1642-1644)Aga>Tga	p.R548*	ZC3H13_ENST00000282007.3_Nonsense_Mutation_p.R548*			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	548	Arg/Ser-rich.						nucleic acid binding|zinc ion binding	p.R548*(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		GACTCATTTCTGGACTCATTC	0.433000													21	134					0	0	0.012319	0	0
PKHD1	5314	broad.mit.edu	37	6	51897943	51897943	+	Silent	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr6:51897943C>A	ENST00000371117.3	-	29	3524	c.3249G>T	c.(3247-3249)gtG>gtT	p.V1083V	PKHD1_ENST00000340994.4_Silent_p.V1083V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1083	IPT/TIG 5.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.V1083V(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CAGTCACATTCACAATGCGTC	0.368000													57	67					1.4709e-25	2.54788e-25	0.014410	1	0
TRIM22	10346	broad.mit.edu	37	11	5717680	5717680	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr11:5717680A>G	ENST00000379965.3	+	2	495	c.218A>G	c.(217-219)cAt>cGt	p.H73R	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	73					immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.H73R(1)		kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		CCTAATCGGCATCTGGCCAAC	0.507000													34	52					0	0	0.003755	0	0
NRXN1	9378	broad.mit.edu	37	2	50733693	50733693	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr2:50733693G>T	ENST00000404971.1	-	14	3896	c.2557C>A	c.(2557-2559)Cgt>Agt	p.R853S	NRXN1_ENST00000402717.3_Missense_Mutation_p.R805S|NRXN1_ENST00000406316.2_Missense_Mutation_p.R813S|NRXN1_ENST00000405472.3_Missense_Mutation_p.R805S|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Missense_Mutation_p.R813S|NRXN1_ENST00000401669.2_Missense_Mutation_p.R813S	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	813	Laminin G-like 4.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.R853S(1)|p.R813S(1)|p.R854S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CGAACTACACGCACTGTGTGC	0.453000													14	20					1.05317e-09	1.3624e-09	0.002450	1	0
OR4C12	283093	broad.mit.edu	37	11	50003169	50003169	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr11:50003169G>T	ENST00000335238.4	-	1	902	c.869C>A	c.(868-870)gCt>gAt	p.A290D		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A290D(1)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TTTTACCTCAGCATTTCTGAG	0.393000													23	71					4.7796e-09	6.04158e-09	0.004656	1	0
ARHGEF15	22899	broad.mit.edu	37	17	8221893	8221893	+	Silent	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr17:8221893C>A	ENST00000361926.3	+	11	1895	c.1785C>A	c.(1783-1785)atC>atA	p.I595I	ARHGEF15_ENST00000421050.1_Silent_p.I595I|AC135178.7_ENST00000458568.1_RNA	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	595	DH.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.I595I(2)		breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CCTAGATCATCGAGCGTTGCA	0.597000													9	35					0.000442599	0.000485741	0.006214	1	0
UACA	55075	broad.mit.edu	37	15	70959250	70959250	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr15:70959250C>G	ENST00000322954.6	-	16	3958	c.3773G>C	c.(3772-3774)tGt>tCt	p.C1258S	UACA_ENST00000560441.1_Missense_Mutation_p.C1243S|UACA_ENST00000539319.1_Missense_Mutation_p.C1149S|UACA_ENST00000379983.2_Missense_Mutation_p.C1245S	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1258						cytoskeleton|extracellular region		p.C1258S(1)|p.C1245S(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						AACTTCCTCACATACTTCCTC	0.338000													71	101					0	0	0.014410	0	0
MIB1	57534	broad.mit.edu	37	18	19424150	19424150	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr18:19424150G>T	ENST00000261537.6	+	15	2411	c.2147G>T	c.(2146-2148)cGt>cTt	p.R716L	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	716					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	p.R716L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			TCTCAGCTACGTCAGCTCCAA	0.478000													41	59					9.85913e-13	1.39728e-12	0.009718	1	0
RGS5	8490	broad.mit.edu	37	1	163117163	163117163	+	Missense_Mutation	SNP	C	C	T	rs147130564	byFrequency	TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:163117163C>T	ENST00000313961.5	-	5	792	c.515G>A	c.(514-516)cGc>cAc	p.R172H	RGS5_ENST00000530507.1_Missense_Mutation_p.R176H|RGS5_ENST00000527988.1_Missense_Mutation_p.R64H|RGS5_ENST00000367903.3_Missense_Mutation_p.R192H	NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	O15539	RGS5_HUMAN	regulator of G-protein signaling 5	172	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.R172H(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			AAACTCAGAGCGCACAAAGCG	0.433000													37	92					0	0	0.003755	0	0
RPL15	6138	broad.mit.edu	37	3	23960910	23960910	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr3:23960910A>G	ENST00000307839.5	+	4	1172	c.533A>G	c.(532-534)cAc>cGc	p.H178R	RPL15_ENST00000456530.2_Intron|RPL15_ENST00000435882.1_Missense_Mutation_p.H178R|RPL15_ENST00000413699.1_Missense_Mutation_p.H178R|RPL15_ENST00000354811.5_Missense_Mutation_p.H178R|NKIRAS1_ENST00000421515.2_Intron|RPL15_ENST00000415719.1_Missense_Mutation_p.H178R	NM_001253379.1|NM_001253380.1|NM_002948.3	NP_001240308.1|NP_001240309.1|NP_002939.2	P61313	RL15_HUMAN	ribosomal protein L15	178					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome	p.H178R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						GGAAAGGGCCACAAGTTCCAC	0.542000													24	21					0	0	0.003954	0	0
OR2T8	343172	broad.mit.edu	37	1	248085161	248085161	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:248085161C>G	ENST00000319968.4	+	1	842	c.842C>G	c.(841-843)cCt>cGt	p.P281R		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P281R(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ATGTTCACCCCTTTACTAAAC	0.473000													97	152					0	0	0.014410	0	0
MIA3	375056	broad.mit.edu	37	1	222805592	222805592	+	Silent	SNP	G	G	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:222805592G>A	ENST00000344922.5	+	5	3280	c.3255G>A	c.(3253-3255)ttG>ttA	p.L1085L	MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Silent_p.L1085L|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1085					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	p.L1085L(1)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CCACCCACTTGGACCAACGTG	0.458000													26	170					0	0	0.007291	0	0
RGPD4	285190	broad.mit.edu	37	2	108488462	108488462	+	Nonsense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr2:108488462C>A	ENST00000408999.3	+	20	4079	c.4002C>A	c.(4000-4002)taC>taA	p.Y1334*	RGPD4_ENST00000354986.4_Nonsense_Mutation_p.Y1334*	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1334	RanBD1 2.				intracellular transport		binding	p.Y1334*(1)		breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ATGGACAGTACTTTGAACCTG	0.413000													110	178					5.13333e-58	9.93969e-58	0.014410	1	0
AMOT	154796	broad.mit.edu	37	X	112022354	112022354	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chrX:112022354C>T	ENST00000371959.3	-	10	3027	c.3028G>A	c.(3028-3030)Gtg>Atg	p.V1010M	AMOT_ENST00000524145.1_Missense_Mutation_p.V1010M|AMOT_ENST00000371962.1_Missense_Mutation_p.V778M|AMOT_ENST00000304758.1_Missense_Mutation_p.V601M	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	1010					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	p.V1010M(1)|p.V601M(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						gttggagcCACAGCCGGAGCT	0.607000													18	42					0	0	0.012319	0	0
CRIP3	401262	broad.mit.edu	37	6	43274041	43274041	+	Silent	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr6:43274041C>A	ENST00000372569.3	-	6	415	c.411G>T	c.(409-411)gtG>gtT	p.V137V	CRIP3_ENST00000274990.4_Silent_p.V137V	NM_206922.2	NP_996805.2	Q6Q6R5	CRIP3_HUMAN	cysteine-rich protein 3	137	LIM zinc-binding 2.					cytoplasm	zinc ion binding	p.V137V(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			CTAATGACATCACCTTCTCAG	0.562000													26	69					7.26314e-15	1.06925e-14	0.007291	1	0
SEMA6A	57556	broad.mit.edu	37	5	115831129	115831129	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr5:115831129G>T	ENST00000343348.6	-	6	1211	c.424C>A	c.(424-426)Cct>Act	p.P142T	CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000257414.8_Missense_Mutation_p.P142T|SEMA6A_ENST00000510263.1_Missense_Mutation_p.P142T|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000503962.1_5'UTR	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	142	Sema.				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	p.P142T(1)|p.P142S(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CTGCAGGAAGGGTTGAAGGCA	0.378000													4	10					2.7689e-08	3.43569e-08	0.001984	1	0
CSMD3	114788	broad.mit.edu	37	8	113697760	113697760	+	Missense_Mutation	SNP	G	G	A	rs150314286	byFrequency	TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr8:113697760G>A	ENST00000297405.5	-	15	2601	c.2357C>T	c.(2356-2358)cCa>cTa	p.P786L	CSMD3_ENST00000343508.3_Missense_Mutation_p.P746L|CSMD3_ENST00000455883.2_Missense_Mutation_p.P682L|CSMD3_ENST00000352409.3_Missense_Mutation_p.P786L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	786	CUB 4.					integral to membrane|plasma membrane		p.P746L(1)|p.P786L(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCCAAGAATTGGGGATTCTGG	0.453000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			39	71					0	0	0.010771	0	0
NOC2L	26155	broad.mit.edu	37	1	887454	887454	+	Silent	SNP	C	C	G			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:887454C>G	ENST00000327044.6	-	11	1306	c.1257G>C	c.(1255-1257)ctG>ctC	p.L419L		NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	419						nucleolus	protein binding	p.L419L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CCGCAGTGCTCAGGACCCGGC	0.587000													22	52					0	0	0.003954	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907248	164907248	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr3:164907248G>T	ENST00000475390.1	-	2	1814	c.1371C>A	c.(1369-1371)aaC>aaA	p.N457K	SLITRK3_ENST00000241274.3_Missense_Mutation_p.N457K			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	457						integral to membrane		p.N457K(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GGCTCTTTAAGTTGGGCAAGT	0.433000										HNSCC(40;0.11)			36	56					2.40579e-17	3.74098e-17	0.006230	1	0
PJA1	64219	broad.mit.edu	37	X	68381937	68381937	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chrX:68381937C>G	ENST00000361478.1	-	2	1522	c.1145G>C	c.(1144-1146)cGa>cCa	p.R382P	PJA1_ENST00000374571.4_Missense_Mutation_p.R327P|PJA1_ENST00000374583.1_Missense_Mutation_p.R382P|PJA1_ENST00000374584.3_Missense_Mutation_p.R194P	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	382							zinc ion binding	p.R194P(1)|p.R382P(1)		endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						GGTTTGCTCTCGGCTTCGATA	0.547000													32	27					0	0	0.003271	0	0
NXPH2	11249	broad.mit.edu	37	2	139429232	139429232	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr2:139429232A>G	ENST00000272641.3	-	2	161	c.55T>C	c.(55-57)Ttt>Ctt	p.F19L		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	19					neuropeptide signaling pathway	extracellular region		p.F19L(1)		endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		CTGTCACAAAATAGCTGTTTG	0.463000													24	66					0	0	0.004656	0	0
PIGR	5284	broad.mit.edu	37	1	207110897	207110897	+	Silent	SNP	C	C	T	rs141346783		TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:207110897C>T	ENST00000356495.4	-	4	771	c.588G>A	c.(586-588)caG>caA	p.Q196Q		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	196	Ig-like V-type 2.					extracellular region|integral to plasma membrane	protein binding	p.Q196Q(1)		central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGCCAGTACCCTGAATATCAA	0.483000													10	45					0	0	0.002450	0	0
ING4	51147	broad.mit.edu	37	12	6760378	6760378	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr12:6760378C>G	ENST00000341550.4	-	8	776	c.730G>C	c.(730-732)Gaa>Caa	p.E244Q	ING4_ENST00000444704.2_Missense_Mutation_p.E221Q|ING4_ENST00000446105.2_Missense_Mutation_p.E241Q|ING4_ENST00000423703.2_3'UTR|ING4_ENST00000396807.4_Missense_Mutation_p.E245Q|ING4_ENST00000486287.1_5'UTR|ING4_ENST00000412586.2_Missense_Mutation_p.E242Q			Q9UNL4	ING4_HUMAN	inhibitor of growth family, member 4	245					apoptosis|cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell proliferation|negative regulation of growth|negative regulation of transcription, DNA-dependent|positive regulation of apoptosis	histone acetyltransferase complex	protein binding|transcription coactivator activity|zinc ion binding	p.E244Q(2)		central_nervous_system(3)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	10						TTCTTCCGTTCTTGGGAGCAG	0.522000													20	18					0	0	0.012319	0	0
C10orf120	399814	broad.mit.edu	37	10	124457454	124457454	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr10:124457454G>T	ENST00000329446.4	-	3	834	c.803C>A	c.(802-804)cCc>cAc	p.P268H		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	268								p.P268H(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				TTTCTTTGCGGGGAGGAATGA	0.368000													72	84					1.14856e-27	2.03594e-27	0.014410	1	0
L2HGDH	79944	broad.mit.edu	37	14	50750752	50750752	+	Splice_Site	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr14:50750752C>A	ENST00000267436.4	-	5	938		c.e5-1		L2HGDH_ENST00000261699.4_Splice_Site|L2HGDH_ENST00000555423.1_Splice_Site|L2HGDH_ENST00000555610.1_Splice_Site|L2HGDH_ENST00000421284.3_Splice_Site			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase						2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity	p.?(1)		kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					CCATTAGACCCTGAAACAGAA	0.378000													17	82					8.34094e-07	9.86632e-07	0.008871	1	0
CHAT	1103	broad.mit.edu	37	10	50824643	50824643	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr10:50824643G>C	ENST00000395562.2	+	3	605	c.136G>C	c.(136-138)Gag>Cag	p.E46Q	CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000339797.1_Missense_Mutation_p.E10Q|CHAT_ENST00000337653.2_Missense_Mutation_p.E128Q|CHAT_ENST00000455728.2_Missense_Mutation_p.E10Q|CHAT_ENST00000351556.3_Missense_Mutation_p.E10Q|CHAT_ENST00000395559.2_Missense_Mutation_p.E10Q	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	128					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	p.E128Q(1)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CAGCAGTGAGGAGTCTGTGAG	0.572000													7	25					0	0	0.001984	0	0
UBTD2	92181	broad.mit.edu	37	5	171639032	171639032	+	Silent	SNP	G	G	T	rs145414052		TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr5:171639032G>T	ENST00000393792.2	-	3	912	c.507C>A	c.(505-507)cgC>cgA	p.R169R		NM_152277.2	NP_689490.2	Q8WUN7	UBTD2_HUMAN	ubiquitin domain containing 2	169	Ubiquitin-like.					cytoplasm		p.R169P(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGTCTGTGCTGCGAACCACAA	0.507000													69	61					1.08321e-29	1.94274e-29	0.014410	1	0
HSP90AB2P	391634	broad.mit.edu	37	4	13339291	13339291	+	RNA	SNP	G	G	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr4:13339291G>A	ENST00000602906.1	+	0	862																				kidney(3)|lung(1)	4						TGCTCCAGCAGAGCAAAATCT	0.433000													25	10					0	0	0.003330	0	0
ABCB5	340273	broad.mit.edu	37	7	20685729	20685729	+	Nonsense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr7:20685729G>T	ENST00000404938.2	+	9	1601	c.949G>T	c.(949-951)Gaa>Taa	p.E317*		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	503	ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.E317*(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TCTTAATGGAGAACCTGGATA	0.408000													23	52					9.04412e-07	1.06566e-06	0.004656	1	0
MMRN1	22915	broad.mit.edu	37	4	90856970	90856970	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr4:90856970A>T	ENST00000394980.1	+	7	2458	c.2139A>T	c.(2137-2139)ttA>ttT	p.L713F	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.L713F|MMRN1_ENST00000508372.1_Missense_Mutation_p.L455F			Q13201	MMRN1_HUMAN	multimerin 1	713					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		p.L713F(1)		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)		ATGATGCCTTAGAAAGACGTA	0.313000													20	76					0	0	0.014323	0	0
CDH18	1016	broad.mit.edu	37	5	19747198	19747198	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr5:19747198G>A	ENST00000507958.1	-	6	1366	c.376C>T	c.(376-378)Ctt>Ttt	p.L126F	CDH18_ENST00000511273.1_Missense_Mutation_p.L126F|CDH18_ENST00000274170.4_Missense_Mutation_p.L126F|CDH18_ENST00000506372.1_Missense_Mutation_p.L126F|CDH18_ENST00000502796.1_Missense_Mutation_p.L126F|CDH18_ENST00000382275.1_Missense_Mutation_p.L126F			Q13634	CAD18_HUMAN	cadherin 18, type 2	126	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L126F(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TGAGCATGAAGCACATAGTGG	0.433000													20	269					0	0	0.002780	0	0
ADAM22	53616	broad.mit.edu	37	7	87763675	87763675	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr7:87763675T>C	ENST00000398204.4	+	13	1432	c.1109T>C	c.(1108-1110)cTt>cCt	p.L370P	ADAM22_ENST00000398209.3_Missense_Mutation_p.L370P|ADAM22_ENST00000265727.7_Missense_Mutation_p.L370P|ADAM22_ENST00000315984.7_Missense_Mutation_p.L370P|ADAM22_ENST00000398201.4_Missense_Mutation_p.L370P	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	370	Peptidase M12B.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	p.L370P(3)		endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GCTGTTACACTTGCCCAGTCA	0.303000													10	11					0	0	0.001855	0	0
EPB41L1	2036	broad.mit.edu	37	20	34782249	34782249	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr20:34782249G>T	ENST00000338074.2	+	12	1577	c.1416G>T	c.(1414-1416)gaG>gaT	p.E472D	EPB41L1_ENST00000373950.2_Missense_Mutation_p.E375D|EPB41L1_ENST00000373946.3_Missense_Mutation_p.E441D|EPB41L1_ENST00000373941.1_Missense_Mutation_p.E472D|EPB41L1_ENST00000441639.1_Missense_Mutation_p.E410D|EPB41L1_ENST00000202028.5_Missense_Mutation_p.E410D	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	472					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	p.E472D(1)|p.E46D(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					AGGAGGGAGAGGTCAGGACTC	0.602000													13	26					7.93312e-07	9.42058e-07	0.002450	1	0
DEPDC7	91614	broad.mit.edu	37	11	33053077	33053077	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr11:33053077T>A	ENST00000311388.3	+	5	1285	c.909T>A	c.(907-909)agT>agA	p.S303R	DEPDC7_ENST00000241051.3_Missense_Mutation_p.S312R	NM_139160.2	NP_631899.2	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	312					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.S303R(1)|p.S312R(1)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						ATTACAGTAGTAGGGAACCTC	0.388000													55	72					0	0	0.014410	0	0
RYR1	6261	broad.mit.edu	37	19	38939008	38939008	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr19:38939008C>A	ENST00000355481.4	+	10	945	c.814C>A	c.(814-816)Cac>Aac	p.H272N	RYR1_ENST00000360985.3_Missense_Mutation_p.H272N|RYR1_ENST00000359596.3_Missense_Mutation_p.H272N	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	272	MIR 4.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.H272N(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GAGTGGGAGCCACCTGCGCTG	0.587000													38	54					8.69298e-16	1.31804e-15	0.006999	1	0
C11orf70	85016	broad.mit.edu	37	11	101946661	101946661	+	Nonsense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr11:101946661G>T	ENST00000434758.2	+	5	521	c.493G>T	c.(493-495)Gag>Tag	p.E165*	C11orf70_ENST00000526781.1_Nonsense_Mutation_p.E165*|C11orf70_ENST00000534360.1_3'UTR	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	165								p.E127*(1)		breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		AGATAGAGAAGAGTTCCTGTT	0.353000													52	116					1.57914e-17	2.46817e-17	0.014410	1	0
CDH4	1002	broad.mit.edu	37	20	60348202	60348202	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr20:60348202G>T	ENST00000360469.5	+	4	628	c.540G>T	c.(538-540)gaG>gaT	p.E180D	CDH4_ENST00000543233.1_Missense_Mutation_p.E106D	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	180	Cadherin 1.				adherens junction organization|cell junction assembly		calcium ion binding	p.E180D(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			ACGTGCCCGAGAACTCGCGCG	0.697000													8	10					1.06961e-07	1.29805e-07	0.003080	1	0
RYR2	6262	broad.mit.edu	37	1	237837479	237837479	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:237837479A>G	ENST00000366574.2	+	59	8991	c.8674A>G	c.(8674-8676)Atc>Gtc	p.I2892V	RYR2_ENST00000542537.1_Missense_Mutation_p.I2876V|RYR2_ENST00000360064.6_Missense_Mutation_p.I2890V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2892	4 X approximate repeats.|Calmodulin-binding (Potential).|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	p.I2890V(1)		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)			AGCACAGGACATCCTCAAGTT	0.413000													61	54					0	0	0.014410	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801123	185801123	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr2:185801123C>A	ENST00000302277.6	+	4	1594	c.1000C>A	c.(1000-1002)Caa>Aaa	p.Q334K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	334						intracellular	zinc ion binding	p.Q334K(1)		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						ATTAGCAGATCAAATACCACT	0.323000													19	43					0.00887093	0.00941279	0.008871	1	0
PDE6A	5145	broad.mit.edu	37	5	149245776	149245776	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr5:149245776A>T	ENST00000255266.5	-	20	2434	c.2315T>A	c.(2314-2316)cTt>cAt	p.L772H		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	772					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.L772H(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GCCGACTTGAAGCTTAGGGAG	0.463000													16	45					0	0	0.007413	0	0
WDR59	79726	broad.mit.edu	37	16	74927609	74927609	+	Silent	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr16:74927609C>A	ENST00000262144.6	-	19	2098	c.1968G>T	c.(1966-1968)ctG>ctT	p.L656L		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	656								p.L656L(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						TGTGAACAGGCAGGAGGCAAG	0.428000													39	64					8.69298e-16	1.31804e-15	0.006999	1	0
CHKA	1119	broad.mit.edu	37	11	67864518	67864518	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr11:67864518G>A	ENST00000265689.4	-	2	456	c.430C>T	c.(430-432)Ctc>Ttc	p.L144F	CHKA_ENST00000356135.5_Missense_Mutation_p.L144F	NM_001277.2	NP_001268.2	P35790	CHKA_HUMAN	choline kinase alpha	144					lipid transport|phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity	p.L144F(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13					Choline(DB00122)	AGCCGCAGGAGCACTTTCCGA	0.517000													35	56					0	0	0.006230	0	0
NPY5R	4889	broad.mit.edu	37	4	164272217	164272217	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr4:164272217G>T	ENST00000515560.1	+	4	2314	c.792G>T	c.(790-792)aaG>aaT	p.K264N	NPY5R_ENST00000506953.1_Missense_Mutation_p.K264N|NPY5R_ENST00000338566.3_Missense_Mutation_p.K264N			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	264					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		p.K264N(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				CATCCAAAAAGAGTGGGCCTC	0.383000													15	84					0.00400662	0.00429635	0.004007	1	0
SLC2A9	56606	broad.mit.edu	37	4	10022985	10022985	+	Silent	SNP	G	G	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr4:10022985G>A	ENST00000264784.3	-	1	122	c.69C>T	c.(67-69)caC>caT	p.H23H	SLC2A9_ENST00000309065.3_Intron|SLC2A9_ENST00000506583.1_Intron	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	23					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	p.H23H(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						GAGGCCCGGCGTGGCTGGTGT	0.577000													7	66					0	0	0.008291	0	0
RP1L1	94137	broad.mit.edu	37	8	10470189	10470189	+	Silent	SNP	G	G	C			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr8:10470189G>C	ENST00000382483.3	-	4	1642	c.1419C>G	c.(1417-1419)ccC>ccG	p.P473P		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	473					intracellular signal transduction			p.P473Q(1)		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)		CCGGGGTCCTGGGGCAGCAGG	0.706000													21	36					0	0	0.009535	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105924698	105924698	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr2:105924698C>A	ENST00000393359.2	-	2	487	c.61G>T	c.(61-63)Gac>Tac	p.D21Y	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.D21Y			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	21					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	p.D21Y(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CGCTCCTTGTCGCCCATCAGC	0.552000													9	27					0.00136819	0.00148018	0.013537	1	0
NAV3	89795	broad.mit.edu	37	12	78225462	78225462	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr12:78225462C>T	ENST00000397909.2	+	1	394	c.221C>T	c.(220-222)gCc>gTc	p.A74V	NAV3_ENST00000266692.7_Missense_Mutation_p.A74V|NAV3_ENST00000536525.2_Missense_Mutation_p.A74V|NAV3_ENST00000228327.6_Missense_Mutation_p.A74V			Q8IVL0	NAV3_HUMAN	neuron navigator 3	74						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.A74V(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAAGGAAAAGCCAAGGAGAAA	0.403000										HNSCC(70;0.22)			10	85					0	0	0.013537	0	0
ATP5EP2	432369	broad.mit.edu	37	13	28519467	28519467	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr13:28519467G>C	ENST00000381026.3	+	1	125	c.71G>C	c.(70-72)aGa>aCa	p.R24T															p.R24T(1)		ovary(1)	1						AAAGTAGTGAGAGATGCACTG	0.468000													5	36					0	0	0.000602	0	0
TRBV6-1	28606	broad.mit.edu	37	7	142028194	142028194	+	RNA	SNP	T	T	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr7:142028194T>A	ENST00000390353.2	+	0	74																											ATCGGGCTCCTGTGCTGTGTG	0.567000													18	98					0	0	0.003954	0	0
DMD	1756	broad.mit.edu	37	X	32503158	32503158	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chrX:32503158C>T	ENST00000357033.4	-	21	2887	c.2681G>A	c.(2680-2682)aGc>aAc	p.S894N	DMD_ENST00000378677.2_Missense_Mutation_p.S890N	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	894					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.S890N(1)|p.S894N(1)|p.S889N(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CAGGGCTATGCTTTGAATTTT	0.408000													24	55					0	0	0.003330	0	0
SOGA2	23255	broad.mit.edu	37	18	8825859	8825859	+	Missense_Mutation	SNP	G	G	T	rs146614505	byFrequency	TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr18:8825859G>T	ENST00000359865.3	+	15	4493	c.4351G>T	c.(4351-4353)Gac>Tac	p.D1451Y	SOGA2_ENST00000306329.11_Missense_Mutation_p.D1770Y|SOGA2_ENST00000306285.7_Missense_Mutation_p.D776Y|SOGA2_ENST00000517570.1_Missense_Mutation_p.D1410Y|SOGA2_ENST00000518815.1_Missense_Mutation_p.D776Y|SOGA2_ENST00000400050.3_Missense_Mutation_p.D1410Y	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	1761								p.D1451Y(1)									CAACATCATTGACCACAGCCC	0.652000													8	46					1.08611e-07	1.31283e-07	0.010729	1	0
MRAP2	112609	broad.mit.edu	37	6	84765081	84765081	+	Nonsense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr6:84765081C>A	ENST00000257776.4	+	2	179	c.44C>A	c.(43-45)tCg>tAg	p.S15*		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	15					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding	p.S15*(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						TCCCAGCAATCGGCATCTAAT	0.413000													24	88					9.95505e-16	1.50564e-15	0.014323	1	0
ANKRD36	375248	broad.mit.edu	37	2	97784159	97784159	+	Nonsense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr2:97784159G>T	ENST00000420699.2	+	3	635	c.391G>T	c.(391-393)Gga>Tga	p.G131*	ANKRD36_ENST00000461153.2_Nonsense_Mutation_p.G131*	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	131								p.G131*(2)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GGATTTCTTTGGAAGGACTGC	0.413000													27	209					1.17739e-12	1.64187e-12	0.005443	1	0
GPM6A	2823	broad.mit.edu	37	4	176561919	176561919	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr4:176561919C>A	ENST00000280187.7	-	6	648	c.603G>T	c.(601-603)atG>atT	p.M201I	GPM6A_ENST00000506219.1_5'UTR|GPM6A_ENST00000506894.1_Missense_Mutation_p.M190I|GPM6A_ENST00000515090.1_Missense_Mutation_p.M194I|GPM6A_ENST00000393658.2_Missense_Mutation_p.M201I	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	201						cell surface|integral to membrane		p.M201I(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		TAGATTCGCACATCCTCAAGA	0.308000													14	54					2.23348e-06	2.60645e-06	0.004007	1	0
PSMD4	5710	broad.mit.edu	37	1	151237896	151237896	+	Silent	SNP	C	C	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:151237896C>T	ENST00000368884.3	+	6	545	c.465C>T	c.(463-465)gcC>gcT	p.A155A	PSMD4_ENST00000368881.4_Silent_p.A155A	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	155	VWFA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding	p.A155A(1)		breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGCTGACAGCCTTTGTAAACA	0.502000													43	44					0	0	0.009718	0	0
GEN1	348654	broad.mit.edu	37	2	17955603	17955603	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr2:17955603G>T	ENST00000381254.2	+	11	1351	c.1137G>T	c.(1135-1137)ttG>ttT	p.L379F	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.L379F	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	379					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding	p.L379F(2)		breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGGTACTTTTGACCCATTATG	0.333000								Homologous recombination					55	144					1.19403e-26	2.09819e-26	0.014410	1	0
LAMP5	24141	broad.mit.edu	37	20	9498797	9498797	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr20:9498797C>G	ENST00000246070.2	+	5	1078	c.586C>G	c.(586-588)Cag>Gag	p.Q196E	LAMP5_ENST00000427562.2_Missense_Mutation_p.Q152E	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	196						integral to membrane		p.Q196E(1)									TAGTGATCCGCAGAAGACGGT	0.517000													31	56					0	0	0.013726	0	0
ATP6V0D2	245972	broad.mit.edu	37	8	87153747	87153747	+	Nonsense_Mutation	SNP	A	A	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr8:87153747A>T	ENST00000285393.3	+	4	692	c.550A>T	c.(550-552)Aaa>Taa	p.K184*	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	184					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding	p.K184*(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						GCTACGCAATAAACTATACAA	0.323000													24	29					0	0	0.004656	0	0
MPPED2	744	broad.mit.edu	37	11	30439067	30439067	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr11:30439067A>T	ENST00000448418.2	-	5	1010	c.650T>A	c.(649-651)cTa>cAa	p.L217Q	MPPED2_ENST00000358117.5_Missense_Mutation_p.L217Q|MPPED2_ENST00000524667.1_5'UTR	NM_001145399.1	NP_001138871.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	217					nervous system development		hydrolase activity|metal ion binding	p.L217Q(2)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						TCACTTACCTAGAGGAGGTCC	0.443000													4	34					0	0	0.009096	0	0
LUM	4060	broad.mit.edu	37	12	91502412	91502412	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr12:91502412C>A	ENST00000266718.4	-	2	799	c.345G>T	c.(343-345)ttG>ttT	p.L115F	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	115					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	p.L115F(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TCAGTTGTTTCAATTTAGAGA	0.413000													39	82					8.16277e-20	1.33055e-19	0.006999	1	0
FRZB	2487	broad.mit.edu	37	2	183730841	183730841	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr2:183730841C>A	ENST00000295113.4	-	1	1049	c.440G>T	c.(439-441)tGc>tTc	p.C147F		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	147	FZ.				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.C147F(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			GGGAGAGATGCACACGCCCCT	0.622000													9	24					6.40141e-05	7.15452e-05	0.010729	1	0
DNAH11	8701	broad.mit.edu	37	7	21742355	21742355	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr7:21742355A>T	ENST00000328843.6	+	38	6260	c.6229A>T	c.(6229-6231)Att>Ttt	p.I2077F	DNAH11_ENST00000409508.3_Missense_Mutation_p.I2070F			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2077	AAA 1 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I2077F(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACTTCGTGCTATTAAGTCTGT	0.388000									Kartagener syndrome				7	33					0	0	0.004482	0	0
SPRYD7	57213	broad.mit.edu	37	13	50510295	50510295	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr13:50510295G>C	ENST00000378195.2	-	1	331	c.77C>G	c.(76-78)cCg>cGg	p.P26R	SPRYD7_ENST00000361840.3_Missense_Mutation_p.P26R	NM_001127482.1	NP_001120954.1	Q5W111	SPRY7_HUMAN	SPRY domain containing 7	26	B30.2/SPRY.							p.P26R(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)	6						CTGCACGGCCGGCATCTCCTT	0.711000											OREG0022415	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	13					0	0	0.001984	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77398154	77398154	+	Silent	SNP	T	T	A			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr16:77398154T>A	ENST00000282849.5	-	5	1321	c.903A>T	c.(901-903)gcA>gcT	p.A301A		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	301	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.A301A(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TTTTCTTGTCTGCCACCACGA	0.478000													57	143					0	0	0.014410	0	0
NEK11	79858	broad.mit.edu	37	3	130884364	130884364	+	Splice_Site	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr3:130884364G>T	ENST00000383366.4	+	12	1469		c.e12+1		NEK11_ENST00000412440.2_Splice_Site|NEK11_ENST00000510688.1_Splice_Site|NEK11_ENST00000356918.4_Splice_Site|NEK11_ENST00000510769.1_Splice_Site|NEK11_ENST00000511262.1_Splice_Site|NEK11_ENST00000507910.1_Splice_Site|NEK11_ENST00000429253.2_Splice_Site|NEK11_ENST00000508196.1_Splice_Site	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11						cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	p.?(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						TGTACTCCATGTAAGTACCCT	0.343000													10	38					0.000673444	0.000732476	0.008291	1	0
GUCY1B3	2983	broad.mit.edu	37	4	156698768	156698768	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr4:156698768G>T	ENST00000264424.8	+	4	353	c.271G>T	c.(271-273)Ggc>Tgc	p.G91C	GUCY1B3_ENST00000505764.1_Missense_Mutation_p.G71C|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.G23C|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.G91C|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.G91C|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.G23C|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.G23C	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	91					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity	p.G91C(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		GCGTGTCCTGGGCTCTAATGT	0.353000													33	119					6.90743e-12	9.50162e-12	0.003755	1	0
SPEN	23013	broad.mit.edu	37	1	16259617	16259617	+	Frame_Shift_Del	DEL	C	C	-			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:16259617delC	ENST00000375759.3	+	11	7086	c.6882delC	c.(6880-6882)ggfs	p.G2294fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2294	Interaction with MSX2 (By similarity).|RID.				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)		CCTCAGCCGGCCCAACAGATA	0.512													18	171	---	---	---	---					
MARC2	54996	broad.mit.edu	37	1	220955126	220955126	+	Frame_Shift_Del	DEL	C	C	-			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr1:220955126delC	ENST00000366913.3	+	7	1089	c.891delC	c.(889-891)cgfs	p.R297fs	MARC2_ENST00000359316.2_Intron|MARC2_ENST00000472447.1_3'UTR	NM_017898.3	NP_060368.2	Q969Z3	MOSC2_HUMAN	mitochondrial amidoxime reducing component 2	297	MOSC.					mitochondrial outer membrane|peroxisome	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										TCAGCTACCGCCTGTGTGATC	0.378													50	216	---	---	---	---					
IWS1	55677	broad.mit.edu	37	2	128261073	128261073	+	Frame_Shift_Del	DEL	C	C	-			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr2:128261073delC	ENST00000295321.4	-	4	1558	c.1299delG	c.(1297-1299)gafs	p.E433fs	IWS1_ENST00000455721.2_Frame_Shift_Del_p.E440fs|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	433	Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		CTATGGTCTTCTCTCTTTTGC	0.428													93	112	---	---	---	---					
POTEE	445582	broad.mit.edu	37	2	132021684	132021684	+	Frame_Shift_Del	DEL	C	C	-			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr2:132021684delC	ENST00000356920.5	+	15	2750	c.2656delC	c.(2656-2658)ctfs	p.P886fs	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	886	Actin-like.						ATP binding										GCGGGAACTGCCTGACTACCT	0.592													9	132	---	---	---	---					
RP11-556I14.1	0	broad.mit.edu	37	4	106024313	106024313	+	RNA	DEL	C	C	-			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr4:106024313delC	ENST00000506386.1	+	0	319																											CATCCCAGTGCCAGAGGAATT	0.418													15	18	---	---	---	---					
PAPD7	11044	broad.mit.edu	37	5	6750603	6750604	+	Frame_Shift_Ins	INS	-	-	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr5:6750603_6750604insT	ENST00000230859.6	+	10	1226_1227	c.1097_1098insT	c.(1096-1098)tggfs	p.W366fs		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	366	Ser-rich.				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	p.S366F(1)		cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TCTTCACTTTCTGGGAGTGACG	0.564													28	158	---	---	---	---					
DNAH5	1767	broad.mit.edu	37	5	13824331	13824331	+	Frame_Shift_Del	DEL	G	G	-			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr5:13824331delG	ENST00000265104.4	-	39	6660	c.6556delC	c.(6556-6558)ggfs	p.R2186fs		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2186					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTCATGTCCCGTAGTACACGC	0.443									Kartagener syndrome				20	145	---	---	---	---					
KIF6	221458	broad.mit.edu	37	6	39545914	39545914	+	Frame_Shift_Del	DEL	C	C	-			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr6:39545914delC	ENST00000287152.7	-	10	1193	c.1099delG	c.(1099-1101)aafs	p.E367fs	KIF6_ENST00000373213.4_Frame_Shift_Del_p.E206fs|KIF6_ENST00000373215.3_Frame_Shift_Del_p.E367fs|KIF6_ENST00000373216.3_Frame_Shift_Del_p.E367fs|KIF6_ENST00000538893.1_Frame_Shift_Del_p.E367fs	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	367					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TCCTGGATTTCCTTTTGTAGG	0.453													92	198	---	---	---	---					
FEZF1	389549	broad.mit.edu	37	7	121942957	121942957	+	Frame_Shift_Del	DEL	C	C	-			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr7:121942957delC	ENST00000442488.2	-	3	1032	c.965delG	c.(964-966)gcfs	p.G322fs	FEZF1_ENST00000427185.2_Frame_Shift_Del_p.G272fs|FEZF1_ENST00000331178.4_Frame_Shift_Del_p.G318fs	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	322					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						AAATGCTTTGCCACACTGGTT	0.388													53	132	---	---	---	---					
ZC3HAV1	56829	broad.mit.edu	37	7	138749670	138749670	+	Frame_Shift_Del	DEL	C	C	-			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr7:138749670delC	ENST00000242351.5	-	8	2264	c.1948delG	c.(1948-1950)tgfs	p.V650fs	ZC3HAV1_ENST00000464606.1_Frame_Shift_Del_p.V772fs|ZC3HAV1_ENST00000471652.1_Frame_Shift_Del_p.V650fs	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	650	WWE.				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TGAAATGGCACAACTCCCCTC	0.448													56	125	---	---	---	---					
ZNF169	169841	broad.mit.edu	37	9	97063626	97063628	+	In_Frame_Del	DEL	CAG	CAG	-	rs12350212	byFrequency	TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr9:97063626_97063628delCAG	ENST00000395395.2	+	5	1876_1878	c.1786_1788delCAG	c.(1786-1788)del	p.Q596del	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	596			Q -> H (in dbSNP:rs12350212).			nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				GTCTGGTCATCAGCTCCTACCCC	0.507													14	18	---	---	---	---					
DIS3	22894	broad.mit.edu	37	13	73333982	73333982	+	Frame_Shift_Del	DEL	T	T	-			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr13:73333982delT	ENST00000377767.4	-	21	2928	c.2828delA	c.(2827-2829)acfs	p.N943fs	DIS3_ENST00000377780.4_Frame_Shift_Del_p.N913fs|DIS3_ENST00000545453.1_Frame_Shift_Del_p.N781fs	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	943					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		AAGGTCCATGTTTGAAGTATC	0.323										Multiple Myeloma(4;0.011)			54	51	---	---	---	---					
TRPV3	162514	broad.mit.edu	37	17	3417247	3417247	+	Frame_Shift_Del	DEL	A	A	-			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr17:3417247delA	ENST00000301365.4	-	18	2471	c.2340delT	c.(2338-2340)ttfs	p.F780fs	TRPV3_ENST00000576742.1_Frame_Shift_Del_p.F779fs			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	779						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	CGACTTCTTCAAATGCATTGA	0.448													64	23	---	---	---	---					
RYR1	6261	broad.mit.edu	37	19	39068645	39068646	+	Frame_Shift_Ins	INS	-	-	T			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr19:39068645_39068646insT	ENST00000355481.4	+	97	14376_14377	c.14245_14246insT	c.(14245-14247)caafs	p.Q4749fs	RYR1_ENST00000360985.3_Frame_Shift_Ins_p.Q4749fs|RYR1_ENST00000359596.3_Frame_Shift_Ins_p.Q4754fs	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4754					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GATCACAGCCCACAATGAGCGC	0.634													11	60	---	---	---	---					
SIGLEC16	400709	broad.mit.edu	37	19	50475422	50475422	+	RNA	DEL	C	C	-			TCGA-73-4668-01A-01D-1265-08	TCGA-73-4668-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fdcb5e9-ada2-4755-ae02-491037ee9c10	b38d41b2-1280-4721-ad18-9e568a2f3827	g.chr19:50475422delC	ENST00000602139.1	+	0	1304									sialic acid binding Ig-like lectin 16 (gene/pseudogene)											endometrium(2)|kidney(2)|lung(6)	10						TGTCCTCCCTCCCACAGAGCC	0.692													7	18	---	---	---	---