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
WDHD1	11169	broad.mit.edu	37	14	55493492	55493492	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr14:55493492C>T	ENST00000360586.3	-	2	79	c.14G>A	c.(13-15)cGg>cAg	p.R5Q	WDHD1_ENST00000420358.2_Intron|WDHD1_ENST00000421192.1_5'UTR	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	5						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CATTGGCTTCCGTGTGGCAGG	0.413000													7	132					0	0	0.003080	0	0
SLITRK4	139065	broad.mit.edu	37	X	142716995	142716995	+	Silent	SNP	G	G	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chrX:142716995G>T	ENST00000381779.4	-	2	2155	c.1930C>A	c.(1930-1932)Cga>Aga	p.R644R	SLITRK4_ENST00000338017.4_Silent_p.R644R|SLITRK4_ENST00000356928.1_Silent_p.R644R	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	644						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TTGTTGCGTCGCAGGACAAAA	0.468000													102	133					5.01286e-43	7.58795e-43	0.014410	1	0
AOC1	26	broad.mit.edu	37	7	150554719	150554719	+	Silent	SNP	C	C	G			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr7:150554719C>G	ENST00000493429.1	+	4	1745	c.1161C>G	c.(1159-1161)ccC>ccG	p.P387P	AOC1_ENST00000467291.1_Silent_p.P387P|AOC1_ENST00000416793.2_Silent_p.P387P|AOC1_ENST00000360937.4_Silent_p.P387P					amine oxidase, copper containing 1																		AGTTAGCCCCCGGCATCGACT	0.602000													36	45					0	0	0.008740	0	0
CSF2	1437	broad.mit.edu	37	5	131409603	131409603	+	Silent	SNP	C	C	A			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr5:131409603C>A	ENST00000296871.2	+	1	121	c.87C>A	c.(85-87)ccC>ccA	p.P29P		NM_000758.3	NP_000749.2	P04141	CSF2_HUMAN	colony stimulating factor 2 (granulocyte-macrophage)	29					immune response|negative regulation of cytolysis|positive regulation of DNA replication|positive regulation of interleukin-23 production|positive regulation of macrophage derived foam cell differentiation|positive regulation of podosome assembly|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|granulocyte macrophage colony-stimulating factor receptor binding|growth factor activity			skin(1)	1		all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Sargramostim(DB00020)	GCACGCAGCCCTGGGAGCATG	0.622000													13	4					0.00400662	0.00423667	0.004007	1	0
LOC150776	150776	broad.mit.edu	37	2	132258937	132258937	+	RNA	SNP	C	C	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr2:132258937C>T	ENST00000438378.2	+	0	887					NR_026922.1																						CCAGCCACTCCCTGTGTCCCT	0.602000													6	9					0	0	0.004482	0	0
THEM5	284486	broad.mit.edu	37	1	151820329	151820329	+	Silent	SNP	G	G	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr1:151820329G>T	ENST00000368817.5	-	5	716	c.585C>A	c.(583-585)ccC>ccA	p.P195P	AL450992.2_ENST00000434182.1_RNA	NM_182578.3	NP_872384.1	Q8N1Q8	THEM5_HUMAN	thioesterase superfamily member 5	195							hydrolase activity	p.P195P(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GAGAGTCCACGGGGATCAAGC	0.537000													18	49					2.94398e-08	3.40639e-08	0.007413	1	0
PKD1L1	168507	broad.mit.edu	37	7	47988007	47988007	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr7:47988007C>T	ENST00000289672.2	-	1	81	c.31G>A	c.(31-33)Gat>Aat	p.D11N		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	11					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TCCTGGTCATCAGAAATGTTC	0.443000													24	76					0	0	0.021523	0	0
TSGA13	114960	broad.mit.edu	37	7	130356550	130356550	+	Silent	SNP	G	G	A			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr7:130356550G>A	ENST00000456951.1	-	8	1460	c.609C>T	c.(607-609)taC>taT	p.Y203Y	TSGA13_ENST00000356588.3_Silent_p.Y203Y			Q96PP4	TSG13_HUMAN	testis specific, 13	203										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					TGAGCTGAGGGTACATTTTCT	0.423000													38	255					0	0	0.017118	0	0
SLC30A6	55676	broad.mit.edu	37	2	32445602	32445602	+	Silent	SNP	A	A	C			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr2:32445602A>C	ENST00000282587.5	+	14	1243	c.1206A>C	c.(1204-1206)ctA>ctC	p.L402L	SLC30A6_ENST00000379343.2_Silent_p.L442L|SLC30A6_ENST00000357055.3_Silent_p.L205L|SLC30A6_ENST00000538303.1_Silent_p.L373L|SLC30A6_ENST00000435660.1_Silent_p.L379L|SLC30A6_ENST00000406369.1_Silent_p.L328L	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	402						Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTATTCTTCTAAACACACAAA	0.413000													86	151					0	0	0.014410	0	0
MOV10L1	54456	broad.mit.edu	37	22	50580512	50580512	+	Silent	SNP	T	T	C			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr22:50580512T>C	ENST00000262794.5	+	16	2156	c.2073T>C	c.(2071-2073)aaT>aaC	p.N691N	MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Silent_p.N691N|MOV10L1_ENST00000545383.1_Silent_p.N691N|MOV10L1_ENST00000540615.1_Silent_p.N671N	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	691					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		ATTTCTAGAATAGGAAAACAA	0.443000													24	29					0	0	0.018920	0	0
ITIH2	3698	broad.mit.edu	37	10	7763666	7763666	+	Missense_Mutation	SNP	C	C	T	rs144713735		TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr10:7763666C>T	ENST00000358415.4	+	8	959	c.793C>T	c.(793-795)Cgg>Tgg	p.R265W	ITIH2_ENST00000379587.4_Missense_Mutation_p.R254W	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	265					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CCCTAACTGCCGGGAGACTGC	0.562000													46	36					0	0	0.014410	0	0
NFKB1	4790	broad.mit.edu	37	4	103517299	103517299	+	Silent	SNP	C	C	G			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr4:103517299C>G	ENST00000226574.4	+	14	1772	c.1305C>G	c.(1303-1305)acC>acG	p.T435T	NFKB1_ENST00000600343.1_Silent_p.T254T|NFKB1_ENST00000505458.1_Silent_p.T434T|NFKB1_ENST00000394820.4_Silent_p.T434T	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	434	Interaction with CFLAR.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|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|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	TCTTAGGAACCATGGACACTG	0.353000													53	26					0	0	0.014410	0	0
FLG	2312	broad.mit.edu	37	1	152286011	152286011	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr1:152286011G>T	ENST00000368799.1	-	3	1386	c.1351C>A	c.(1351-1353)Caa>Aaa	p.Q451K	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	451	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGGACTCTTGGTGGCTCTGC	0.577000									Ichthyosis				36	133					3.78316e-11	4.64488e-11	0.006230	1	0
TUBGCP5	114791	broad.mit.edu	37	15	22848330	22848330	+	Splice_Site	SNP	A	A	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr15:22848330A>T	ENST00000283645.4	+	9	1050	c.921_splice	c.e9+1	p.H307_splice	TUBGCP5_ENST00000453949.2_Splice_Site_p.H307_splice	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	307					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		CATTTAACACATGTAAGTTAT	0.249000													20	26					0	0	0.008871	0	0
MTMR11	10903	broad.mit.edu	37	1	149902342	149902342	+	Missense_Mutation	SNP	C	C	T	rs145659444	byFrequency	TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr1:149902342C>T	ENST00000439741.2	-	15	1812	c.1562G>A	c.(1561-1563)cGt>cAt	p.R521H	MTMR11_ENST00000361405.6_3'UTR|MTMR11_ENST00000369140.3_Missense_Mutation_p.R449H|MTMR11_ENST00000406732.3_3'UTR|MTMR11_ENST00000492824.1_5'UTR	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	521	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			ATTGCTATAACGTAAATCCCA	0.483000													76	395					0	0	0.014410	0	0
HOXB5	3215	broad.mit.edu	37	17	46669781	46669781	+	Silent	SNP	C	C	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr17:46669781C>T	ENST00000239151.5	-	2	878	c.600G>A	c.(598-600)gcG>gcA	p.A200A	HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB3_ENST00000552000.2_Intron	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	200						nucleus	sequence-specific DNA binding			large_intestine(1)|lung(2)	3						AGCGGGTATACGCGGTCCGGG	0.612000													5	179					0	0	0.001168	0	0
RIF1	55183	broad.mit.edu	37	2	152318776	152318776	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr2:152318776A>G	ENST00000243326.4	+	27	3731	c.3248A>G	c.(3247-3249)tAt>tGt	p.Y1083C	RIF1_ENST00000430328.2_Missense_Mutation_p.Y1083C|RIF1_ENST00000453091.2_Missense_Mutation_p.Y1083C|RIF1_ENST00000444746.2_Missense_Mutation_p.Y1083C|RIF1_ENST00000428287.2_Missense_Mutation_p.Y1083C			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	1083					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			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)		CCTGCCATGTATAATAATCTG	0.318000													37	26					0	0	0.008740	0	0
CUL1	8454	broad.mit.edu	37	7	148481085	148481085	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr7:148481085A>G	ENST00000325222.4	+	11	1493	c.1214A>G	c.(1213-1215)aAc>aGc	p.N405S	CUL1_ENST00000409469.1_Missense_Mutation_p.N405S|CUL1_ENST00000602748.1_Missense_Mutation_p.N405S	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	405					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TTCATAAACAACAACGCGGTT	0.468000													20	37					0	0	0.010504	0	0
TRBV4-1	28617	broad.mit.edu	37	7	142013252	142013252	+	RNA	SNP	A	A	C			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr7:142013252A>C	ENST00000390357.3	+	0	136																											GGAATGACAAATAAGAAGTCT	0.458000													17	55					0	0	0.004007	0	0
DBX2	440097	broad.mit.edu	37	12	45410235	45410235	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr12:45410235T>A	ENST00000332700.6	-	4	1025	c.854A>T	c.(853-855)cAg>cTg	p.Q285L		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	285						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		ACTTGAGTGCTGTTGGGGGAC	0.507000													50	208					0	0	0.014410	0	0
BZW1	9689	broad.mit.edu	37	2	201683537	201683537	+	Silent	SNP	C	C	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr2:201683537C>T	ENST00000409600.1	+	9	1334	c.879C>T	c.(877-879)atC>atT	p.I293I	BZW1_ENST00000452790.2_Silent_p.I325I|BZW1_ENST00000409226.1_Silent_p.I297I	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	293	W2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						CAGTTGTCATCGGAATAGTCT	0.378000													38	49					0	0	0.021022	0	0
ARL8A	127829	broad.mit.edu	37	1	202103614	202103614	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr1:202103614G>A	ENST00000272217.2	-	7	710	c.542C>T	c.(541-543)tCg>tTg	p.S181L		NM_001256129.1|NM_138795.3	NP_001243058.1|NP_620150.1	Q96BM9	ARL8A_HUMAN	ADP-ribosylation factor-like 8A	181					cell division|chromosome segregation|mitosis|small GTPase mediated signal transduction	late endosome membrane|lysosomal membrane|midbody|spindle midzone	alpha-tubulin binding|beta-tubulin binding|GTP binding|GTPase activity			large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						CCGTGACTTCGAGTGTTGAAT	0.572000													39	112					0	0	0.011902	0	0
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070557	32070557	+	RNA	SNP	G	G	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr16:32070557G>T	ENST00000566806.1	-	0	499																											TGGTGCAGCTGGTGCAGTCTG	0.587000													27	28					7.88023e-25	1.13086e-24	0.014410	1	0
GJA9	81025	broad.mit.edu	37	1	39341674	39341674	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr1:39341674G>A	ENST00000454994.2	-	2	373	c.97C>T	c.(97-99)Cga>Tga	p.R33*	RP5-864K19.4_ENST00000456813.1_RNA|GJA9_ENST00000360786.3_Nonsense_Mutation_p.R33*|RP5-864K19.4_ENST00000443161.1_RNA|GJA9_ENST00000357771.3_Nonsense_Mutation_p.R33*|RP5-864K19.4_ENST00000433671.2_RNA|MYCBP_ENST00000489803.1_5'UTR			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	33					cell communication	connexon complex|integral to membrane				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			ACAAGCATTCGAAATATGAAC	0.463000													74	354					0	0	0.014410	0	0
FLG	2312	broad.mit.edu	37	1	152282507	152282507	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr1:152282507A>G	ENST00000368799.1	-	3	4890	c.4855T>C	c.(4855-4857)Tat>Cat	p.Y1619H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1619	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCAGATCCATAATGGTTTCTG	0.562000									Ichthyosis				3	103					0	0	0.004672	0	0
HDAC6	10013	broad.mit.edu	37	X	48665048	48665048	+	Silent	SNP	C	C	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chrX:48665048C>T	ENST00000334136.5	+	8	745	c.567C>T	c.(565-567)ggC>ggT	p.G189G	HDAC6_ENST00000376619.2_Silent_p.G189G|HDAC6_ENST00000444343.2_Silent_p.G203G|HDAC6_ENST00000469223.1_3'UTR|HDAC6_ENST00000413163.2_Silent_p.G134G			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	189	Histone deacetylase 1.				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	TGGCCTCAGGCTCTGTCCTCA	0.547000													31	102					0	0	0.006999	0	0
SPTBN4	57731	broad.mit.edu	37	19	41019462	41019462	+	Splice_Site	SNP	G	G	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr19:41019462G>T	ENST00000352632.3	+	14	2851		c.e14+1		SPTBN4_ENST00000344104.3_Splice_Site|SPTBN4_ENST00000595535.1_Splice_Site|SPTBN4_ENST00000338932.3_Splice_Site|SPTBN4_ENST00000598249.1_Splice_Site			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4						actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGCAGCACCGGTGAGCGCGCA	0.602000													8	12					0.00448238	0.00469482	0.004482	1	0
ZC3H11A	9877	broad.mit.edu	37	1	203798755	203798755	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr1:203798755G>C	ENST00000545588.1	+	5	4302	c.475G>C	c.(475-477)Gct>Cct	p.A159P	ZC3H11A_ENST00000367210.1_Missense_Mutation_p.A159P|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.A159P|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.A159P|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.A159P	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	159							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TGTAATTAATGCTGCAGATGA	0.443000													37	228					0	0	0.008740	0	0
TXNIP	10628	broad.mit.edu	37	1	145440088	145440088	+	Silent	SNP	T	T	C			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr1:145440088T>C	ENST00000369317.4	+	4	856	c.522T>C	c.(520-522)ccT>ccC	p.P174P	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	174					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGTTCATTCCTGATGGGCGGG	0.418000													12	843					0	0	0.016723	0	0
ZC3H12B	340554	broad.mit.edu	37	X	64722832	64722832	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chrX:64722832A>G	ENST00000338957.4	+	5	2321	c.2254A>G	c.(2254-2256)Atg>Gtg	p.M752V	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.M741V	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	741							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TAACAGCCTCATGCAACCATG	0.547000													22	31					0	0	0.016522	0	0
WNT6	7475	broad.mit.edu	37	2	219736487	219736487	+	Silent	SNP	A	A	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr2:219736487A>T	ENST00000233948.3	+	3	799	c.582A>T	c.(580-582)ggA>ggT	p.G194G		NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	194					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACAAGCGGGGACGCGGAGACA	0.657000													6	13					0	0	0.004482	0	0
MYO18B	84700	broad.mit.edu	37	22	26164635	26164635	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr22:26164635C>T	ENST00000335473.7	+	4	1002	c.752C>T	c.(751-753)aCa>aTa	p.T251I	MYO18B_ENST00000407587.2_Missense_Mutation_p.T251I|MYO18B_ENST00000536101.1_Missense_Mutation_p.T251I	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	251						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCCAAGACCACAGAGCTGAAA	0.637000													3	21					0	0	0.009096	0	0
GABRG3	2567	broad.mit.edu	37	15	27271912	27271912	+	Missense_Mutation	SNP	G	G	T	rs79497756		TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr15:27271912G>T	ENST00000333743.6	+	3	468	c.214G>T	c.(214-216)Gta>Tta	p.V72L	GABRG3_ENST00000555083.1_Missense_Mutation_p.V72L	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	72					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.V72L(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		AAAACCGACCGTAATTGACGT	0.398000													6	19					0.00198382	0.00212827	0.001984	1	0
MUC17	140453	broad.mit.edu	37	7	100681801	100681801	+	Silent	SNP	T	T	A			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr7:100681801T>A	ENST00000306151.4	+	3	7168	c.7104T>A	c.(7102-7104)ccT>ccA	p.P2368P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2368	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAGCACACCTGTGACTACTT	0.463000													23	41					0	0	0.004656	0	0
WBSCR17	64409	broad.mit.edu	37	7	70800688	70800688	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr7:70800688G>T	ENST00000333538.5	+	2	1025	c.391G>T	c.(391-393)Gac>Tac	p.D131Y	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	131						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				AATTTCACTGGACCGTTCCAT	0.498000													41	51					5.20837e-25	7.5232e-25	0.008740	1	0
SLC11A1	6556	broad.mit.edu	37	2	219255992	219255992	+	Silent	SNP	C	C	G			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr2:219255992C>G	ENST00000233202.6	+	10	1366	c.1026C>G	c.(1024-1026)gcC>gcG	p.A342A	SLC11A1_ENST00000539932.1_Silent_p.A224A	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	342					activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCACCGTGGCCGTGGACATTT	0.637000													26	91					0	0	0.010818	0	0
CHAT	1103	broad.mit.edu	37	10	50833700	50833700	+	Splice_Site	SNP	G	G	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr10:50833700G>T	ENST00000395562.2	+	7	1156		c.e7+1		CHAT_ENST00000455728.2_Splice_Site|CHAT_ENST00000337653.2_Splice_Site|CHAT_ENST00000339797.1_Splice_Site|CHAT_ENST00000395559.2_Splice_Site|CHAT_ENST00000351556.3_Splice_Site	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase						neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			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)	CTGCAATCAGGTAAGCAACCC	0.607000													6	2					2.0095e-06	2.25431e-06	0.001984	1	0
SALL4	57167	broad.mit.edu	37	20	50408809	50408809	+	Silent	SNP	C	C	A	rs141479802		TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr20:50408809C>A	ENST00000217086.4	-	2	324	c.213G>T	c.(211-213)acG>acT	p.T71T	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Silent_p.T71T|SALL4_ENST00000483130.1_5'UTR	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	71					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CACAGACGTGCGTCTCCTCCC	0.493000													16	63					6.94344e-10	8.16224e-10	0.006122	1	0
CHRM2	1129	broad.mit.edu	37	7	136700194	136700194	+	Silent	SNP	C	C	A			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr7:136700194C>A	ENST00000445907.2	+	3	1110	c.582C>A	c.(580-582)gcC>gcA	p.A194A	CHRM2_ENST00000401861.1_Silent_p.A194A|CHRM2_ENST00000453373.1_Silent_p.A194A|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000320658.5_Silent_p.A194A|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000402486.3_Silent_p.A194A|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000397608.3_Silent_p.A194A	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	194					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	CTATTGCAGCCTTCTATTTGC	0.483000													53	55					6.32628e-17	8.17607e-17	0.014410	1	0
MYOZ1	58529	broad.mit.edu	37	10	75394386	75394386	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr10:75394386C>A	ENST00000359322.4	-	4	722	c.358G>T	c.(358-360)Ggc>Tgc	p.G120C		NM_021245.3	NP_067068.1	Q9NP98	MYOZ1_HUMAN	myozenin 1	120	Gly-rich.				myofibril assembly	nucleus|pseudopodium	FATZ binding			central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					GAGCCACTGCCCCCTGCCTGG	0.642000													12	42					0.000308642	0.000339353	0.003163	1	0
ZAN	7455	broad.mit.edu	37	7	100389686	100389686	+	RNA	SNP	G	G	C			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr7:100389686G>C	ENST00000542585.1	+	0	7773				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_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				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)			GCGAGCAACAGCACCCAGGCC	0.672000													5	29					0	0	0.001984	0	0
DAZL	1618	broad.mit.edu	37	3	16640098	16640098	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr3:16640098G>T	ENST00000250863.8	-	2	358	c.71C>A	c.(70-72)gCa>gAa	p.A24E	DAZL_ENST00000399444.2_Missense_Mutation_p.A4E	NM_001190811.1	NP_001177740.1	Q92904	DAZL_HUMAN	deleted in azoospermia-like	4					germ cell development|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding|translation activator activity	p.A4E(1)	RAF1/DAZL(2)	endometrium(1)|large_intestine(3)|lung(4)|prostate(3)	11						TTCAGGATTTGCAGTAGACTG	0.358000													5	100					0.014758	0.0152407	0.014758	1	0
PTPRF	5792	broad.mit.edu	37	1	44069399	44069399	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr1:44069399G>T	ENST00000359947.4	+	16	2916	c.2576G>T	c.(2575-2577)cGg>cTg	p.R859L	PTPRF_ENST00000422171.2_Missense_Mutation_p.R207L|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_Missense_Mutation_p.R850L|PTPRF_ENST00000372413.3_Missense_Mutation_p.R850L|PTPRF_ENST00000372414.3_Missense_Mutation_p.R859L	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	859	Fibronectin type-III 6.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CAGTACTGCCGGGCCGACGAG	0.622000													18	42					8.24728e-16	1.0475e-15	0.004656	1	0
REG1B	5968	broad.mit.edu	37	2	79312722	79312722	+	Missense_Mutation	SNP	C	C	A	rs141167987		TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr2:79312722C>A	ENST00000305089.3	-	5	409	c.329G>T	c.(328-330)cGc>cTc	p.R110L		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	110	C-type lectin.				cell proliferation	extracellular region	sugar binding			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						CCAGTGCCAGCGGCGGTTCTA	0.542000													25	50					5.60225e-13	6.9949e-13	0.009535	1	0
ARNTL2	56938	broad.mit.edu	37	12	27556474	27556474	+	Splice_Site	SNP	G	G	A			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr12:27556474G>A	ENST00000544915.1	+	13	1703	c.1484_splice	c.e13+1	p.R495_splice	ARNTL2_ENST00000395901.2_Splice_Site_p.R492_splice|ARNTL2_ENST00000266503.5_Splice_Site_p.R529_splice|ARNTL2_ENST00000546179.1_Splice_Site_p.R492_splice|ARNTL2_ENST00000261178.5_Splice_Site_p.R481_splice|ARNTL2_ENST00000542388.1_Splice_Site_p.R444_splice|RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000311001.5_Splice_Site_p.R515_splice	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	529					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					GATTTACAGAGGTAATGTTTT	0.313000													19	48					0	0	0.007413	0	0
TAB3	257397	broad.mit.edu	37	X	30877604	30877604	+	Splice_Site	SNP	C	C	A			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chrX:30877604C>A	ENST00000378933.1	-	2	279	c.102_splice	c.e2+1	p.Q34_splice	TAB3_ENST00000378932.2_Splice_Site_p.Q34_splice|TAB3_ENST00000378930.3_Splice_Site_p.Q34_splice|TAB3_ENST00000288422.2_Splice_Site_p.Q34_splice	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	34	CUE.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						GGTAACTTACCTGTAACATGC	0.433000													21	50					3.62473e-10	4.28377e-10	0.012319	1	0
MYOCD	93649	broad.mit.edu	37	17	12642628	12642628	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr17:12642628G>A	ENST00000425538.1	+	7	900	c.700G>A	c.(700-702)Gtg>Atg	p.V234M	MYOCD_ENST00000395988.1_Missense_Mutation_p.V138M|MYOCD_ENST00000343344.4_Missense_Mutation_p.V234M	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	234					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCCCATAGCCGTGCATGCTGC	0.587000													3	32					0	0	0.004672	0	0
GIPR	2696	broad.mit.edu	37	19	46184989	46184989	+	Silent	SNP	G	G	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr19:46184989G>T	ENST00000590918.1	+	14	1296	c.1197G>T	c.(1195-1197)gtG>gtT	p.V399V	GIPR_ENST00000263281.3_3'UTR|GIPR_ENST00000304207.8_Silent_p.V363V	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	399					generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		TCTCACAGGTGCAGTCGGAGA	0.736000													15	5					7.01153e-11	8.46748e-11	0.007291	1	0
NOMO1	23420	broad.mit.edu	37	16	14970223	14970223	+	Silent	SNP	C	C	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr16:14970223C>T	ENST00000287667.7	+	21	2535	c.2364C>T	c.(2362-2364)tgC>tgT	p.C788C		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	788						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TAGAAAGCTGCCCAGGGAAGC	0.502000													5	212					0	0	0.001168	0	0
ELN	2006	broad.mit.edu	37	7	73474365	73474365	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr7:73474365G>A	ENST00000252034.7	+	23	1963	c.1564G>A	c.(1564-1566)Ggt>Agt	p.G522S	ELN_ENST00000357036.5_Missense_Mutation_p.G527S|ELN_ENST00000380584.4_Missense_Mutation_p.G489S|ELN_ENST00000358929.4_Missense_Mutation_p.G557S|ELN_ENST00000380576.5_Missense_Mutation_p.G503S|ELN_ENST00000380575.4_Missense_Mutation_p.G493S|ELN_ENST00000414324.1_Missense_Mutation_p.G498S|ELN_ENST00000380553.4_Missense_Mutation_p.G386S|ELN_ENST00000380562.4_Missense_Mutation_p.G528S|ELN_ENST00000458204.1_Missense_Mutation_p.G512S|ELN_ENST00000445912.1_Missense_Mutation_p.G522S|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000429192.1_Missense_Mutation_p.G508S|ELN_ENST00000320399.6_Missense_Mutation_p.G522S|ELN_ENST00000320492.7_Missense_Mutation_p.G441S	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	551	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CATTGGCCCTGGTGGAGTTGC	0.642000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						3	74					0	0	0.004672	0	0
MAGEE1	57692	broad.mit.edu	37	X	75649284	75649284	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chrX:75649284C>T	ENST00000361470.2	+	1	1239	c.961C>T	c.(961-963)Ccg>Tcg	p.P321S		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	321	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CACCTCCGTGCCGCCCACCCC	0.711000													5	12					0	0	0.014758	0	0
CLRN1	7401	broad.mit.edu	37	3	150690460	150690460	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr3:150690460C>A	ENST00000327047.1	-	1	326	c.36G>T	c.(34-36)atG>atT	p.M12I	CLRN1-AS1_ENST00000476886.1_RNA|CLRN1_ENST00000328863.4_Missense_Mutation_p.M12I|RP11-166N6.2_ENST00000469268.1_RNA	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1	12					equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			ACACTCCGGCCATGCAAAAAA	0.507000													43	131					8.86878e-18	1.17365e-17	0.014410	1	0
CELSR1	9620	broad.mit.edu	37	22	46780524	46780524	+	Missense_Mutation	SNP	C	C	A	rs149238203		TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr22:46780524C>A	ENST00000262738.3	-	20	6798	c.6799G>T	c.(6799-6801)Gac>Tac	p.D2267Y		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2267					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGGATGGTGTCGAATCGCGGG	0.522000													5	13					5.18039e-06	5.78215e-06	0.003080	1	0
ARID5B	84159	broad.mit.edu	37	10	63852047	63852047	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr10:63852047T>G	ENST00000279873.7	+	10	3235	c.2825T>G	c.(2824-2826)gTc>gGc	p.V942G	ARID5B_ENST00000309334.5_Missense_Mutation_p.V699G	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	942					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					CAGTTCCAGGTCTTAGGCAGC	0.562000													50	212					0	0	0.014410	0	0
COLEC12	81035	broad.mit.edu	37	18	346516	346516	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr18:346516G>T	ENST00000400256.3	-	5	1313	c.1106C>A	c.(1105-1107)aCc>aAc	p.T369N		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	369					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TGTGCAAGTGGTCCTGACTTC	0.458000													41	56					2.95478e-19	4.00617e-19	0.008740	1	0
MECOM	2122	broad.mit.edu	37	3	168833655	168833655	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr3:168833655C>A	ENST00000464456.1	-	7	2641	c.1441G>T	c.(1441-1443)Gct>Tct	p.A481S	MECOM_ENST00000433243.2_Missense_Mutation_p.A482S|MECOM_ENST00000392736.3_Missense_Mutation_p.A481S|MECOM_ENST00000264674.3_Missense_Mutation_p.A546S|MECOM_ENST00000472280.1_Missense_Mutation_p.A482S|MECOM_ENST00000468789.1_Missense_Mutation_p.A481S|MECOM_ENST00000494292.1_Missense_Mutation_p.A669S|MECOM_ENST00000460814.1_Missense_Mutation_p.A481S	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TATTTTTCAGCAATAGAAGCA	0.428000													66	247					2.03967e-17	2.66726e-17	0.014410	1	0
TRIM71	131405	broad.mit.edu	37	3	32933252	32933252	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr3:32933252C>A	ENST00000383763.4	+	4	2619	c.2556C>A	c.(2554-2556)gaC>gaA	p.D852E		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	852					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCACCCCCGACGGAATGATCG	0.532000													46	18					1.81118e-26	2.6508e-26	0.014410	1	0
CALCR	799	broad.mit.edu	37	7	93065484	93065484	+	Splice_Site	SNP	T	T	C			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr7:93065484T>C	ENST00000359558.2	-	14	1332		c.e14-2		CALCR_ENST00000394441.1_Splice_Site|CALCR_ENST00000360249.4_Splice_Site|CALCR_ENST00000426151.1_Splice_Site|CALCR_ENST00000421592.1_Splice_Site	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor						activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	GAAATTGACCTGCAAATATAC	0.403000													34	32					0	0	0.019004	0	0
RSPRY1	89970	broad.mit.edu	37	16	57261339	57261339	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr16:57261339C>G	ENST00000537866.1	+	11	2120	c.1247C>G	c.(1246-1248)cCt>cGt	p.P416R	RSPRY1_ENST00000563073.1_3'UTR|RSPRY1_ENST00000394420.4_Missense_Mutation_p.P416R			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	416	B30.2/SPRY.					extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						AGAAGTAAGCCTCACATACAC	0.433000													7	40					0	0	0.001984	0	0
NAV2	89797	broad.mit.edu	37	11	19970595	19970595	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr11:19970595A>G	ENST00000396085.1	+	10	2975	c.2614A>G	c.(2614-2616)Aag>Gag	p.K872E	NAV2_ENST00000540292.1_Missense_Mutation_p.K826E|NAV2_ENST00000527559.2_Missense_Mutation_p.K824E|NAV2_ENST00000349880.4_Missense_Mutation_p.K872E|NAV2_ENST00000396087.3_Missense_Mutation_p.K895E|NAV2_ENST00000360655.4_Missense_Mutation_p.K808E	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	895						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TGTTCTGAGCAAGAACATCCG	0.572000													35	34					0	0	0.011902	0	0
AHNAK2	113146	broad.mit.edu	37	14	105414449	105414449	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr14:105414449G>T	ENST00000333244.5	-	7	7458	c.7339C>A	c.(7339-7341)Ccc>Acc	p.P2447T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2447						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCACGCTGGGCTGAGACACC	0.627000													18	16					5.03518e-11	6.11415e-11	0.007413	1	0
ARSF	416	broad.mit.edu	37	X	3002623	3002623	+	Missense_Mutation	SNP	G	G	T	rs148764513		TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chrX:3002623G>T	ENST00000381127.1	+	6	967	c.746G>T	c.(745-747)cGg>cTg	p.R249L	ARSF_ENST00000359361.2_Missense_Mutation_p.R249L|ARSF_ENST00000537104.1_Missense_Mutation_p.R249L	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	249						extracellular region	arylsulfatase activity|metal ion binding	p.R249P(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		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)				CTCCTCATGCGGGGGCACGAG	0.493000													26	41					3.73988e-18	4.979e-18	0.006320	1	0
EMILIN1	11117	broad.mit.edu	37	2	27303041	27303041	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr2:27303041A>G	ENST00000380320.4	+	2	692	c.193A>G	c.(193-195)Acc>Gcc	p.T65A		NM_007046.3	NP_008977.1	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	65	EMI.				cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTACGTGGTGACCCGGACAGT	0.597000													38	42					0	0	0.006999	0	0
PAPSS2	9060	broad.mit.edu	37	10	89505590	89505590	+	Splice_Site	SNP	C	C	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr10:89505590C>T	ENST00000361175.4	+	12	2077	c.1706_splice	c.e12-1	p.H570_splice	PAPSS2_ENST00000427144.2_Splice_Site_p.H574_splice|PAPSS2_ENST00000456849.1_Splice_Site_p.H575_splice	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	570					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		CTGTAACAGGCACAATGAGTT	0.478000													22	23					0	0	0.016522	0	0
SOX3	6658	broad.mit.edu	37	X	139586817	139586817	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chrX:139586817C>A	ENST00000370536.2	-	1	408	c.409G>T	c.(409-411)Gac>Tac	p.D137Y		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	137					face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					TTCACACGGTCCTGGTCTGTA	0.662000													25	40					1.16021e-09	1.34951e-09	0.007291	1	0
GBA	2629	broad.mit.edu	37	1	155208062	155208062	+	Silent	SNP	C	C	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr1:155208062C>T	ENST00000428024.2	-	5	865	c.363G>A	c.(361-363)caG>caA	p.Q121Q	GBA_ENST00000493842.1_5'UTR|GBA_ENST00000427500.2_Silent_p.Q159Q|GBA_ENST00000536770.1_Silent_p.Q95Q|GBA_ENST00000368373.3_Silent_p.Q208Q|GBA_ENST00000327247.5_Silent_p.Q208Q	NM_001171811.1	NP_001165282.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	208					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	AAACGGGACGCTGGGCCAACT	0.572000									Gaucher disease type I				9	45					0	0	0.006214	0	0
ACKR3	57007	broad.mit.edu	37	2	237490078	237490078	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr2:237490078T>C	ENST00000272928.3	+	2	1280	c.970T>C	c.(970-972)Tac>Cac	p.Y324H		NM_020311.2	NP_064707.1			atypical chemokine receptor 3																		CAACTACAGGTACGAGCTGAT	0.557000													15	47					0	0	0.004990	0	0
TMEM87A	25963	broad.mit.edu	37	15	42520945	42520945	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr15:42520945C>T	ENST00000389834.4	-	13	1469	c.1205G>A	c.(1204-1206)cGg>cAg	p.R402Q	TMEM87A_ENST00000448392.1_Missense_Mutation_p.R341Q	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	402						integral to membrane				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		GGTGAAATGCCGATACAAAGA	0.383000													5	193					0	0	0.001984	0	0
CACNG6	59285	broad.mit.edu	37	19	54496139	54496139	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr19:54496139G>T	ENST00000252729.2	+	1	598	c.8G>T	c.(7-9)tGg>tTg	p.W3L	CACNG6_ENST00000352529.1_Missense_Mutation_p.W3L|CACNG6_ENST00000346968.2_Missense_Mutation_p.W3L	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	3						voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		AAGATGATGTGGTCCAACTTC	0.741000													19	57					3.69857e-22	5.10864e-22	0.008361	1	0
NUP93	9688	broad.mit.edu	37	16	56866268	56866268	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr16:56866268C>T	ENST00000564887.1	+	10	1573	c.944C>T	c.(943-945)tCa>tTa	p.S315L	NUP93_ENST00000569842.1_Missense_Mutation_p.S438L|NUP93_ENST00000542526.1_Missense_Mutation_p.S315L|NUP93_ENST00000308159.5_Missense_Mutation_p.S438L	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	438					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CTCACTCTCTCACAGTTCCAG	0.453000													10	186					0	0	0.010729	0	0
C3orf36	80111	broad.mit.edu	37	3	133647605	133647605	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr3:133647605G>A	ENST00000408895.2	-	1	1051	c.43C>T	c.(43-45)Ccc>Tcc	p.P15S		NM_025041.2	NP_079317.2	Q3SXR2	CC036_HUMAN	chromosome 3 open reading frame 36	15										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6						ACAGCCTGGGGTAAGCCAGCC	0.637000													7	131					0	0	0.008291	0	0
IRS4	8471	broad.mit.edu	37	X	107978335	107978335	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chrX:107978335G>T	ENST00000372129.2	-	1	1316	c.1240C>A	c.(1240-1242)Ctg>Atg	p.L414M		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	414						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GGCAGGTGCAGTCTTCCTCGC	0.652000													18	36					4.63292e-17	6.0228e-17	0.008871	1	0
ZNF667	63934	broad.mit.edu	37	19	56973727	56973727	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr19:56973727G>A	ENST00000591790.1	-	2	1441	c.13C>T	c.(13-15)Cgg>Tgg	p.R5W	ZNF667_ENST00000342634.3_Missense_Mutation_p.R98W|ZNF667_ENST00000504904.3_Missense_Mutation_p.R5W|ZNF667_ENST00000292069.6_Missense_Mutation_p.R5W			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	5					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R5R(1)		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)		GATTTCCCCCGTGCAGAAGGC	0.542000													103	304					0	0	0.014410	0	0
EYA3	2140	broad.mit.edu	37	1	28319944	28319944	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr1:28319944C>T	ENST00000373871.3	-	14	1510	c.1270G>A	c.(1270-1272)Gaa>Aaa	p.E424K	EYA3_ENST00000373864.1_Missense_Mutation_p.E267K|EYA3_ENST00000545175.1_Missense_Mutation_p.E371K|EYA3_ENST00000540618.1_Missense_Mutation_p.E378K|EYA3_ENST00000373863.3_Missense_Mutation_p.E378K|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000436342.2_Missense_Mutation_p.E298K			Q99504	EYA3_HUMAN	eyes absent homolog 3 (Drosophila)	424					anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		TCATAGATTTCTCTCACTTTC	0.483000													11	130					0	0	0.020292	0	0
RAC2	5880	broad.mit.edu	37	22	37627429	37627429	+	Splice_Site	SNP	C	C	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr22:37627429C>T	ENST00000249071.6	-	5	411	c.288_splice	c.e5-1	p.W97_splice	RAC2_ENST00000406508.1_Splice_Site_p.W53_splice|RAC2_ENST00000405484.1_Splice_Site_p.W90_splice	NM_002872.3	NP_002863.1	P15153	RAC2_HUMAN	ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)	97					axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12						TTCTGGGAACCACTGGGCAGG	0.627000													8	15					0	0	0.003080	0	0
GAD1	2571	broad.mit.edu	37	2	171687701	171687701	+	Splice_Site	SNP	A	A	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr2:171687701A>T	ENST00000358196.3	+	5	1096	c.547_splice	c.e5+1	p.T182_splice	GAD1_ENST00000344257.5_Splice_Site_p.T182_splice|GAD1_ENST00000375272.1_Splice_Site_p.T182_splice|GAD1_ENST00000429023.1_3'UTR	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	182					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GGGTTCGCACAGGTAAGGAGG	0.522000													38	47					0	0	0.008740	0	0
LVRN	206338	broad.mit.edu	37	5	115350954	115350954	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr5:115350954C>A	ENST00000357872.4	+	17	2580	c.2456C>A	c.(2455-2457)cCt>cAt	p.P819H	AQPEP_ENST00000515454.1_3'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		819					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										TACAGAATACCTTATCCAATT	0.264000													26	8					8.24728e-16	1.0475e-15	0.004656	1	0
TRAPPC9	83696	broad.mit.edu	37	8	141310603	141310603	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr8:141310603G>A	ENST00000389328.4	-	11	2041	c.2027C>T	c.(2026-2028)gCa>gTa	p.A676V	TRAPPC9_ENST00000389327.3_Missense_Mutation_p.A569V|TRAPPC9_ENST00000438773.2_Missense_Mutation_p.A578V	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	578					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						ACGGTTGTGTGCGATAATTGG	0.478000													54	194					0	0	0.014410	0	0
OR6M1	390261	broad.mit.edu	37	11	123676277	123676277	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr11:123676277G>C	ENST00000309154.2	-	1	818	c.781C>G	c.(781-783)Cag>Gag	p.Q261E		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		GAGGAGTTCTGATTGGGTCTC	0.502000													52	82					0	0	0.014410	0	0
LRRC4B	94030	broad.mit.edu	37	19	51022505	51022505	+	Silent	SNP	C	C	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr19:51022505C>T	ENST00000599957.1	-	3	662	c.465G>A	c.(463-465)gaG>gaA	p.E155E	LRRC4B_ENST00000389201.3_Silent_p.E155E			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	155						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		TGGACAGGTACTCGAAGGCCT	0.657000													26	59					0	0	0.010818	0	0
AP2M1	1173	broad.mit.edu	37	3	183897989	183897989	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr3:183897989G>A	ENST00000382456.3	+	4	687	c.373G>A	c.(373-375)Gag>Aag	p.E125K	EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000439647.1_Missense_Mutation_p.E125K|AP2M1_ENST00000292807.5_Missense_Mutation_p.E125K|AP2M1_ENST00000411763.2_Missense_Mutation_p.E150K	NM_001025205.1	NP_001020376.1	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	125					axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACAGAATTCCGAGACAGGCGC	0.512000													5	28					0	0	0.001984	0	0
KIF2B	84643	broad.mit.edu	37	17	51901864	51901864	+	Silent	SNP	T	T	A			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr17:51901864T>A	ENST00000268919.4	+	1	1626	c.1470T>A	c.(1468-1470)ccT>ccA	p.P490P		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	490					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGAACAAGCCTCACACCCCAT	0.527000													38	71					0	0	0.007835	0	0
UBQLNL	143630	broad.mit.edu	37	11	5536962	5536962	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr11:5536962T>C	ENST00000380184.1	-	1	973	c.710A>G	c.(709-711)gAg>gGg	p.E237G	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	237										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)		CTGCATTATCTCTTGGATCAT	0.473000													4	211					0	0	0.009096	0	0
RB1	5925	broad.mit.edu	37	13	48941648	48941648	+	Nonsense_Mutation	SNP	C	C	T	rs121913300		TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr13:48941648C>T	ENST00000267163.4	+	10	1096	c.958C>T	c.(958-960)Cga>Tga	p.R320*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	320					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.R320*(11)|p.?(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCTTTCTAAACGATACGAAGA	0.313000	R320*(GMS10_CENTRAL_NERVOUS_SYSTEM)|R320*(ISHIKAWAHERAKLIO02ER_ENDOMETRIUM)	6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			37	14					0	0	0.017118	0	0
SLC18A3	6572	broad.mit.edu	37	10	50818821	50818821	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr10:50818821C>A	ENST00000374115.3	+	1	475	c.35C>A	c.(34-36)gCg>gAg	p.A12E	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	12					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						CAGGCCCGGGCGGCGGCCACC	0.731000													3	1					0.00909568	0.0094373	0.009096	1	0
OR5L1	219437	broad.mit.edu	37	11	55579435	55579435	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr11:55579435A>G	ENST00000333973.2	+	1	582	c.493A>G	c.(493-495)Agg>Ggg	p.R165G		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CTTAGCTCTTAGGATCCCCTT	0.443000													136	172					0	0	0.014410	0	0
GJA9	81025	broad.mit.edu	37	1	39340384	39340384	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr1:39340384G>C	ENST00000357771.3	-	2	1667	c.1387C>G	c.(1387-1389)Caa>Gaa	p.Q463E	RP5-864K19.4_ENST00000456813.1_RNA|GJA9_ENST00000454994.2_Intron|GJA9_ENST00000360786.3_Missense_Mutation_p.Q463E|RP5-864K19.4_ENST00000443161.1_RNA|RP5-864K19.4_ENST00000433671.2_RNA|MYCBP_ENST00000489803.1_5'UTR	NM_030772.4	NP_110399.2	P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	463					cell communication	connexon complex|integral to membrane				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			TCAAGTGATTGAGAATCTCCT	0.478000													17	114					0	0	0.004990	0	0
MDH1B	130752	broad.mit.edu	37	2	207621750	207621750	+	Silent	SNP	G	G	A			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr2:207621750G>A	ENST00000374412.3	-	4	560	c.285C>T	c.(283-285)gtC>gtT	p.V95V	MDH1B_ENST00000392214.2_Silent_p.V95V|MDH1B_ENST00000454776.2_Silent_p.V95V|MDH1B_ENST00000449792.1_5'UTR	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	95					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		TGCTAGAGGTGACATCATAAT	0.368000													5	238					0	0	0.001168	0	0
TUBB8	347688	broad.mit.edu	37	10	93941	93941	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr10:93941G>T	ENST00000447903.2	-	4	490	c.175C>A	c.(175-177)Cag>Aag	p.Q59K	TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000309812.4_Missense_Mutation_p.Q131K			Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	131					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		TGGAAACCCTGCAGGCAGTCA	0.592000													8	35					1.08611e-07	1.24368e-07	0.010729	1	0
COL25A1	84570	broad.mit.edu	37	4	109784494	109784494	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr4:109784494G>A	ENST00000399132.1	-	21	1663	c.1133C>T	c.(1132-1134)cCt>cTt	p.P378L	COL25A1_ENST00000399126.1_Missense_Mutation_p.P378L|COL25A1_ENST00000399127.1_Missense_Mutation_p.P374L	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	378	Collagen-like 5.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GGGGGCTCCAGGTTCCCCTCG	0.478000													21	8					0	0	0.010504	0	0
PTH	5741	broad.mit.edu	37	11	13513995	13513995	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr11:13513995T>C	ENST00000282091.1	-	3	419	c.305A>G	c.(304-306)gAc>gGc	p.D102G	PTH_ENST00000529816.1_Missense_Mutation_p.D102G	NM_000315.2	NP_000306.1	P01270	PTHY_HUMAN	parathyroid hormone	102					bone resorption|cAMP metabolic process|cell-cell signaling|cellular calcium ion homeostasis|cellular macromolecule biosynthetic process|induction of apoptosis by hormones|positive regulation of cAMP biosynthetic process|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|skeletal system development		hormone activity|peptide hormone receptor binding			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(625;0.00116)|Epithelial(150;0.0357)|LUSC - Lung squamous cell carcinoma(625;0.0836)		ATCAGCTTTGTCTGCCTCTCC	0.438000													15	52					0	0	0.010504	0	0
NRIP3	56675	broad.mit.edu	37	11	9007341	9007341	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr11:9007341C>T	ENST00000309166.3	-	4	592	c.479G>A	c.(478-480)cGg>cAg	p.R160Q	NRIP3_ENST00000531090.1_Intron	NM_020645.2	NP_065696.1	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	160					proteolysis		aspartic-type endopeptidase activity			large_intestine(1)|lung(4)|skin(1)|stomach(1)	7				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		TTTGAGATGCCGGGGTAGAGA	0.512000													5	194					0	0	0.014758	0	0
ANKRD36BP2	645784	broad.mit.edu	37	2	89103938	89103938	+	RNA	SNP	T	T	A			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr2:89103938T>A	ENST00000393525.3	+	0	4412																											TAAGATGTACTAAGGGGATGG	0.323000													11	17					0	0	0.016723	0	0
APBB1IP	54518	broad.mit.edu	37	10	26800771	26800771	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr10:26800771G>T	ENST00000376236.4	+	7	1082	c.627G>T	c.(625-627)gaG>gaT	p.E209D		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	209	Ras-associating.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						ACCTTTTCGAGAAAACTCATT	0.478000													27	92					3.73988e-18	4.979e-18	0.006320	1	0
VPS13A	23230	broad.mit.edu	37	9	79929509	79929509	+	Silent	SNP	A	A	G			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr9:79929509A>G	ENST00000360280.3	+	37	4601	c.4341A>G	c.(4339-4341)acA>acG	p.T1447T	VPS13A_ENST00000357409.5_Silent_p.T1447T|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376634.4_Silent_p.T1447T|VPS13A_ENST00000376636.3_Silent_p.T1408T	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1447					Golgi to endosome transport|protein transport	intracellular	protein binding			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						ATGGCTCAACATTTTCTTCCT	0.318000													34	65					0	0	0.013726	0	0
ABCC12	94160	broad.mit.edu	37	16	48162431	48162431	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr16:48162431G>A	ENST00000311303.3	-	9	1799	c.1454C>T	c.(1453-1455)cCa>cTa	p.P485L	ABCC12_ENST00000416054.1_Missense_Mutation_p.P485L|ABCC12_ENST00000448542.1_Missense_Mutation_p.P485L	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	485	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TTGCTCCTCTGGGCCAGTGGC	0.527000													18	211					0	0	0.006320	0	0
SHROOM3	57619	broad.mit.edu	37	4	77675663	77675663	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr4:77675663G>T	ENST00000296043.6	+	7	4980	c.4027G>T	c.(4027-4029)Gtc>Ttc	p.V1343F		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1343					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GCAAGGGCTGGTCACAGACAC	0.617000													56	8					8.77104e-35	1.31864e-34	0.014410	1	0
POLG	5428	broad.mit.edu	37	15	89865209	89865209	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr15:89865209G>C	ENST00000268124.5	-	15	2797	c.2464C>G	c.(2464-2466)Ccc>Gcc	p.P822A	POLG_ENST00000442287.2_Missense_Mutation_p.P822A	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	822					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			ACAGCACGGGGCAGAGCTGAC	0.577000								DNA polymerases (catalytic subunits)					32	38					0	0	0.012213	0	0
BATF2	116071	broad.mit.edu	37	11	64756651	64756651	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr11:64756651G>A	ENST00000301887.4	-	3	905	c.775C>T	c.(775-777)Cac>Tac	p.H259Y	BATF2_ENST00000527716.1_Missense_Mutation_p.H235Y|BATF2_ENST00000435842.2_Missense_Mutation_p.H174Y	NM_138456.3	NP_612465.3	Q8N1L9	BATF2_HUMAN	basic leucine zipper transcription factor, ATF-like 2	259						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|skin(1)	9						AGGAGAGGGTGAGGGCTGGGA	0.612000													16	79					0	0	0.004007	0	0
XIAP	331	broad.mit.edu	37	X	123019558	123019558	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chrX:123019558G>T	ENST00000371199.3	+	2	345	c.46G>T	c.(46-48)Gac>Tac	p.D16Y	XIAP_ENST00000434753.3_Missense_Mutation_p.D16Y|XIAP_ENST00000355640.3_Missense_Mutation_p.D16Y|XIAP_ENST00000468691.1_Intron	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	16					anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						TGTACCTGCAGACATCAATAA	0.333000									X-linked Lymphoproliferative syndrome				18	53					5.03518e-11	6.11415e-11	0.007413	1	0
HSP90AB2P	391634	broad.mit.edu	37	4	13338714	13338714	+	RNA	SNP	C	C	A			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr4:13338714C>A	ENST00000602906.1	+	0	502																				kidney(3)|lung(1)	4						AGTGGAGAAGCACTCTCAGTT	0.448000													34	15					1.30998e-17	1.72325e-17	0.005524	1	0
FRG1B	284802	broad.mit.edu	37	20	29624058	29624058	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr20:29624058G>T	ENST00000278882.3	+	4	462	c.82G>T	c.(82-84)Gag>Tag	p.E28*	FRG1B_ENST00000439954.2_Nonsense_Mutation_p.E33*|FRG1B_ENST00000358464.4_Nonsense_Mutation_p.E28*																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGTCCTCCAGAGCAGTTTAT	0.264000													6	13					0.00307968	0.00328797	0.003080	1	0
TM2D3	80213	broad.mit.edu	37	15	102182750	102182750	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr15:102182750T>C	ENST00000561373.1	-	4	1037	c.481A>G	c.(481-483)Acg>Gcg	p.T161A	TM2D3_ENST00000347970.3_Missense_Mutation_p.T200A|TM2D3_ENST00000559107.1_Intron|TM2D3_ENST00000428002.2_Intron|TM2D3_ENST00000333202.3_Missense_Mutation_p.T226A			Q9BRN9	TM2D3_HUMAN	TM2 domain containing 3	226						integral to membrane				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCTATCAGCGTCCATATTCCC	0.562000													3	64					0	0	0.004672	0	0
OR56A4	120793	broad.mit.edu	37	11	6023456	6023456	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr11:6023456G>C	ENST00000330728.4	-	1	968	c.923C>G	c.(922-924)aCa>aGa	p.T308R		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGCAGGACTGTGCTGAAGAA	0.527000													33	25					0	0	0.013726	0	0
MUC6	4588	broad.mit.edu	37	11	1017909	1017909	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr11:1017909A>G	ENST00000421673.2	-	31	4942	c.4892T>C	c.(4891-4893)gTc>gCc	p.V1631A		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1631	Approximate repeats.|Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGGGTGATGACTGTGTGAGT	0.557000													5	80					0	0	0.001984	0	0
IRX2	153572	broad.mit.edu	37	5	2749503	2749503	+	Silent	SNP	C	C	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr5:2749503C>T	ENST00000382611.6	-	2	896	c.648G>A	c.(646-648)gaG>gaA	p.E216E	IRX2_ENST00000302057.5_Silent_p.E216E|IRX2_ENST00000502957.1_5'UTR	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	216						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CACCTTCGTCCTCTGCCGAGG	0.672000													5	70					0	0	0.001168	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14851554	14851554	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr18:14851554G>T	ENST00000358984.4	+	36	3434	c.3254G>T	c.(3253-3255)tGc>tTc	p.C1085F		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1170										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						CATGAAAATTGCATGTTGAAA	0.308000													9	6					0.000274275	0.000303074	0.004482	1	0
TBX10	347853	broad.mit.edu	37	11	67402588	67402588	+	Missense_Mutation	SNP	G	G	A	rs147388176		TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr11:67402588G>A	ENST00000335385.3	-	2	241	c.154C>T	c.(154-156)Ccc>Tcc	p.P52S		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	52					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						TGCCCAGTGGGCTCGGCCACA	0.627000													13	16					0	0	0.020292	0	0
PIM2	11040	broad.mit.edu	37	X	48771550	48771550	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chrX:48771550C>T	ENST00000376509.4	-	6	983	c.794G>A	c.(793-795)cGg>cAg	p.R265Q	PIM2_ENST00000485431.1_5'UTR	NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	pim-2 oncogene	265	Protein kinase.				anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity			lung(3)|stomach(1)	4						GGCCAGGCACCGGCGGATTAG	0.592000													7	24					0	0	0.004482	0	0
DUSP27	92235	broad.mit.edu	37	1	167086710	167086710	+	Missense_Mutation	SNP	C	C	A	rs146625016	byFrequency	TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr1:167086710C>A	ENST00000361200.2	+	4	517	c.351C>A	c.(349-351)gaC>gaA	p.D117E	DUSP27_ENST00000443333.1_Missense_Mutation_p.D117E|DUSP27_ENST00000271385.5_Missense_Mutation_p.D117E			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	117					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			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						GTGTCCTGGACCTACAGCGGG	0.572000													10	11					2.27111e-07	2.58719e-07	0.013537	1	0
ATP10D	57205	broad.mit.edu	37	4	47527626	47527626	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr4:47527626C>A	ENST00000273859.3	+	5	1012	c.743C>A	c.(742-744)cCa>cAa	p.P248Q	ATP10D_ENST00000504445.1_Missense_Mutation_p.P248Q	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	248					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TGTGAAAGCCCAAACAATGAC	0.368000													20	45					1.87028e-06	2.10884e-06	0.012319	1	0
CDC42EP1	11135	broad.mit.edu	37	22	37964470	37964470	+	Silent	SNP	C	C	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr22:37964470C>T	ENST00000249014.4	+	3	1239	c.819C>T	c.(817-819)ccC>ccT	p.P273P		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	273	8 X 7 AA tandem repeats of [PT]-[AT]-A- [ENT]-[PT]-[PTS]-[AG].				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CTGCAAATCCCCCAGCCCCTG	0.657000													3	5					0	0	0.014758	0	0
ZNF468	90333	broad.mit.edu	37	19	53344722	53344722	+	Silent	SNP	C	C	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr19:53344722C>T	ENST00000595646.1	-	4	945	c.825G>A	c.(823-825)gaG>gaA	p.E275E	ZNF468_ENST00000396409.4_Silent_p.E222E|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000390651.4_Silent_p.E222E|ZNF468_ENST00000243639.4_3'UTR			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		TCTTGCCACACTCATTACACT	0.403000													21	219					0	0	0.004656	0	0
ZAN	7455	broad.mit.edu	37	7	100389676	100389676	+	RNA	SNP	G	G	C			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr7:100389676G>C	ENST00000542585.1	+	0	7763				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_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				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)			GGAGCAGCTGGCGAGCAACAG	0.662000													3	26					0	0	0.001168	0	0
PTGES3L-AARSD1	100885850	broad.mit.edu	37	17	41106915	41106915	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr17:41106915C>A	ENST00000421990.2	-	14	1798	c.1453G>T	c.(1453-1455)Gga>Tga	p.G485*	PTGES3L-AARSD1_ENST00000409103.1_Nonsense_Mutation_p.G394*|PTGES3L-AARSD1_ENST00000409399.1_Nonsense_Mutation_p.G485*|AARSD1_ENST00000427569.2_Nonsense_Mutation_p.G311*|PTGES3L-AARSD1_ENST00000360221.4_Nonsense_Mutation_p.G424*	NM_001136042.2	NP_001129514.2																					ACCACACCTCCCCAGTCTGGA	0.468000													47	95					3.50607e-19	4.72464e-19	0.014410	1	0
NLGN3	54413	broad.mit.edu	37	X	70389605	70389605	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chrX:70389605A>T	ENST00000374051.3	+	7	2467	c.2145A>T	c.(2143-2145)aaA>aaT	p.K715N	NLGN3_ENST00000536169.1_Missense_Mutation_p.K695N|NLGN3_ENST00000358741.3_Missense_Mutation_p.K735N|NLGN3_ENST00000476589.1_3'UTR	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	735					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					GTAAGGACAAACGGCGCCAGG	0.632000													6	15					0	0	0.006214	0	0
KCNQ5	56479	broad.mit.edu	37	6	73787159	73787159	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr6:73787159G>A	ENST00000342056.2	+	4	1129	c.731G>A	c.(730-732)cGc>cAc	p.R244H	KCNQ5_ENST00000414165.2_Missense_Mutation_p.R244H|KCNQ5_ENST00000370392.1_Missense_Mutation_p.R244H|KCNQ5_ENST00000402622.2_Missense_Mutation_p.R244H|KCNQ5_ENST00000355635.3_Missense_Mutation_p.R244H|KCNQ5_ENST00000370398.1_Missense_Mutation_p.R244H|KCNQ5_ENST00000403813.2_Missense_Mutation_p.R244H|KCNQ5_ENST00000355194.4_Missense_Mutation_p.R244H	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	244			R -> C (in a colorectal cancer sample; somatic mutation).		protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.R244H(2)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		CGCATGGTGCGCATGGACCGA	0.438000													4	84					0	0	0.009096	0	0
C9orf50	375759	broad.mit.edu	37	9	132382763	132382763	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr9:132382763G>A	ENST00000372478.4	-	1	292	c.91C>T	c.(91-93)Cgg>Tgg	p.R31W	NTMT1_ENST00000372486.1_Intron	NM_199350.3	NP_955382.3	Q5SZB4	CI050_HUMAN	chromosome 9 open reading frame 50	31										central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10		Ovarian(14;0.00556)				TTGGGCAGCCGCGGGTCGCTG	0.771000													2	0					0	0	0.004672	0	0
EFCAB7	84455	broad.mit.edu	37	1	63999765	63999765	+	Splice_Site	SNP	G	G	C			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr1:63999765G>C	ENST00000371088.4	+	6	928		c.e6-1			NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7								calcium ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						ACTTGTTGCAGGTGACACCAG	0.378000													66	127					0	0	0.014410	0	0
COL9A1	1297	broad.mit.edu	37	6	70944245	70944245	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr6:70944245G>T	ENST00000357250.6	-	35	2469	c.2311C>A	c.(2311-2313)Caa>Aaa	p.Q771K	RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000320755.7_Missense_Mutation_p.Q528K|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.Q528K	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	771	Nonhelical region (NC2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TATTTACCTTGTATGACTCTC	0.368000													55	57					5.73332e-34	8.56124e-34	0.014410	1	0
ZNF638	27332	broad.mit.edu	37	2	71591198	71591198	+	Silent	SNP	A	A	T	rs141783047		TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr2:71591198A>T	ENST00000409544.1	+	5	2163	c.1533A>T	c.(1531-1533)ccA>ccT	p.P511P	ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000355812.3_Silent_p.P511P|ZNF638_ENST00000377802.2_Silent_p.P511P|ZNF638_ENST00000264447.4_Silent_p.P511P	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	511	Arg-rich.				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CTCGAAGCCCAATGCATTACA	0.453000													57	82					0	0	0.014410	0	0
POLG	5428	broad.mit.edu	37	15	89865208	89865208	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr15:89865208G>A	ENST00000268124.5	-	15	2798	c.2465C>T	c.(2464-2466)cCc>cTc	p.P822L	POLG_ENST00000442287.2_Missense_Mutation_p.P822L	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	822					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CACAGCACGGGGCAGAGCTGA	0.572000								DNA polymerases (catalytic subunits)					33	38					0	0	0.013726	0	0
RBP3	5949	broad.mit.edu	37	10	48383953	48383953	+	Silent	SNP	G	G	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr10:48383953G>T	ENST00000224600.4	-	3	3392	c.3279C>A	c.(3277-3279)ccC>ccA	p.P1093P		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	1093	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AGCACAAGATGGGAATGGAGG	0.577000													6	23					0.00448238	0.00469482	0.004482	1	0
DSCAML1	57453	broad.mit.edu	37	11	117303888	117303888	+	Silent	SNP	C	C	G			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr11:117303888C>G	ENST00000321322.6	-	29	5173	c.5172G>C	c.(5170-5172)ctG>ctC	p.L1724L	DSCAML1_ENST00000527706.1_Silent_p.L1454L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1664					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CCTCGATGAGCAGCTGGACCC	0.567000													37	55					0	0	0.005524	0	0
TTN	7273	broad.mit.edu	37	2	179447076	179447076	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr2:179447076T>G	ENST00000589042.1	-	314	66331	c.66107A>C	c.(66106-66108)tAt>tCt	p.Y22036S	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Y12971S|TTN_ENST00000342175.6_Missense_Mutation_p.Y13163S|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Y13096S|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Y19468S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Y20395S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20395	Ig-like 115.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCTACTCCATATTTATTTTC	0.418000													19	30					0	0	0.012319	0	0
MXRA5	25878	broad.mit.edu	37	X	3229155	3229155	+	Silent	SNP	C	C	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chrX:3229155C>T	ENST00000217939.6	-	7	7243	c.7089G>A	c.(7087-7089)gtG>gtA	p.V2363V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2363	Ig-like C2-type 8.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTACAGTGACCACGTCTCCAT	0.562000													32	54					0	0	0.017118	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658394	72658394	+	RNA	SNP	G	G	A			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr7:72658394G>A	ENST00000425256.1	-	0	1517					NR_002164.1																						tgtacccgtcgtgggcaccgt	0.463000													10	21					0	0	0.013537	0	0
NUDT13	25961	broad.mit.edu	37	10	74879877	74879877	+	Nonsense_Mutation	SNP	C	C	G			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr10:74879877C>G	ENST00000357321.4	+	3	303	c.185C>G	c.(184-186)tCa>tGa	p.S62*	NUDT13_ENST00000372997.3_Nonsense_Mutation_p.S62*|NUDT13_ENST00000488223.1_3'UTR|NUDT13_ENST00000537969.1_5'UTR|NUDT13_ENST00000544879.1_5'UTR|NUDT13_ENST00000349051.5_Nonsense_Mutation_p.S62*	NM_015901.4	NP_056985.3	Q86X67	NUD13_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 13	62							hydrolase activity|metal ion binding			large_intestine(2)|lung(5)	7	Prostate(51;0.0119)					CTTCAGACTTCAGCACATCAA	0.498000													18	18					0	0	0.008871	0	0
SPAG17	200162	broad.mit.edu	37	1	118579413	118579413	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr1:118579413C>G	ENST00000336338.5	-	24	3478	c.3413G>C	c.(3412-3414)gGa>gCa	p.G1138A		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1138						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TCCATTTGATCCATAGTAACT	0.438000													5	5					0	0	0.014758	0	0
ABCC11	85320	broad.mit.edu	37	16	48244989	48244989	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr16:48244989C>T	ENST00000394747.1	-	10	1827	c.1478G>A	c.(1477-1479)gGg>gAg	p.G493E	ABCC11_ENST00000537808.1_Missense_Mutation_p.G493E|ABCC11_ENST00000353782.5_Missense_Mutation_p.G493E|ABCC11_ENST00000394748.1_Missense_Mutation_p.G493E|ABCC11_ENST00000356608.2_Missense_Mutation_p.G493E	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	493						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CTCCAGTGCCCCATTGACGAT	0.582000													45	221					0	0	0.009718	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140725827	140725827	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr5:140725827G>T	ENST00000253812.6	+	1	2227	c.2227G>T	c.(2227-2229)Gcg>Tcg	p.A743S	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTGTGGGCGCGGACGGGGT	0.667000													33	12					1.57351e-24	2.24353e-24	0.017118	1	0
TEX15	56154	broad.mit.edu	37	8	30700551	30700551	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr8:30700551G>A	ENST00000256246.2	-	1	6057	c.5983C>T	c.(5983-5985)Cag>Tag	p.Q1995*		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1995										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AATTCAGCCTGATCCAATATC	0.308000													13	78					0	0	0.016723	0	0
APEX2	27301	broad.mit.edu	37	X	55029451	55029451	+	Missense_Mutation	SNP	C	C	A	rs75862529		TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chrX:55029451C>A	ENST00000374987.3	+	4	545	c.479C>A	c.(478-480)gCg>gAg	p.A160E	APEX2_ENST00000471758.1_3'UTR	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	160					cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						TGCCCCCATGCGGACCCTGGG	0.547000								Other BER factors					11	23					1.96292e-10	2.33229e-10	0.010504	1	0
MED12	9968	broad.mit.edu	37	X	70342079	70342079	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chrX:70342079G>T	ENST00000333646.6	+	8	1330	c.1131G>T	c.(1129-1131)ttG>ttT	p.L377F	MED12_ENST00000374080.3_Missense_Mutation_p.L377F|MED12_ENST00000374102.1_Missense_Mutation_p.L377F	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	377					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CTAGTGCCTTGGTTTGGCACT	0.512000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						21	691					1.10513e-12	1.3721e-12	0.014323	1	0
ERAL1	26284	broad.mit.edu	37	17	27183332	27183332	+	Missense_Mutation	SNP	C	C	T	rs112005054		TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr17:27183332C>T	ENST00000254928.5	+	2	431	c.334C>T	c.(334-336)Cgg>Tgg	p.R112W	ERAL1_ENST00000578001.1_3'UTR	NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Era-like 12S mitochondrial rRNA chaperone 1	112					ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|ribosomal small subunit binding|rRNA binding	p.R112W(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			TGAGAATTCCCGGGTCCTACG	0.537000													7	278					0	0	0.001984	0	0
CHD6	84181	broad.mit.edu	37	20	40033720	40033720	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr20:40033720A>G	ENST00000373233.3	-	37	7838	c.7661T>C	c.(7660-7662)cTa>cCa	p.L2554P	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2554					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TGTGCTTGATAGAGACGCCGG	0.542000													4	180					0	0	0.001168	0	0
PGRMC1	10857	broad.mit.edu	37	X	118370574	118370574	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chrX:118370574G>T	ENST00000217971.7	+	1	359	c.248G>T	c.(247-249)gGc>gTc	p.G83V	PGRMC1_ENST00000535419.1_Missense_Mutation_p.G83V	NM_006667.3	NP_006658.1	O00264	PGRC1_HUMAN	progesterone receptor membrane component 1	83	Cytochrome b5 heme-binding.					cell surface|endoplasmic reticulum membrane|integral to membrane|microsome|nucleolus	heme binding|protein binding|receptor activity|steroid binding			lung(6)	6						CGCTTCGACGGCGTCCAGGAC	0.716000													11	16					3.27435e-08	3.76892e-08	0.020292	1	0
OR10J3	441911	broad.mit.edu	37	1	159283909	159283909	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr1:159283909C>A	ENST00000332217.5	-	1	540	c.541G>T	c.(541-543)Gat>Tat	p.D181Y		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TGTCTCACATCACAGAAGAAG	0.498000													56	54					7.89702e-26	1.14819e-25	0.014410	1	0
TBC1D24	57465	broad.mit.edu	37	16	2546726	2546726	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr16:2546726G>A	ENST00000567020.1	+	2	717	c.577G>A	c.(577-579)Gcg>Acg	p.A193T	RP11-20I23.1_ENST00000564543.1_Missense_Mutation_p.A193T|TBC1D24_ENST00000434757.2_Missense_Mutation_p.A193T|TBC1D24_ENST00000293970.5_Missense_Mutation_p.A193T	NM_020705.2	NP_065756.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	193	Rab-GAP TBC.				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						GTACTGCCAGGCGGCCCACAA	0.627000													10	13					0	0	0.016723	0	0
RPGR	6103	broad.mit.edu	37	X	38129066	38129066	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chrX:38129066A>G	ENST00000339363.3	-	18	3043	c.2876T>C	c.(2875-2877)gTc>gCc	p.V959A	RPGR_ENST00000318842.7_Missense_Mutation_p.V754A|RPGR_ENST00000309513.3_Missense_Mutation_p.V692A|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000338898.3_3'UTR			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	959					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						TATTGAGGGGACTCTTTTGAA	0.318000													6	30					0	0	0.001168	0	0
CARD10	29775	broad.mit.edu	37	22	37893099	37893099	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr22:37893099C>G	ENST00000403299.1	-	13	2090	c.1874G>C	c.(1873-1875)gGg>gCg	p.G625A	CARD10_ENST00000406271.3_Missense_Mutation_p.G339A|CARD10_ENST00000251973.5_Missense_Mutation_p.G625A			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	625					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					CCATCTGTCCCCATAAAACGA	0.652000													33	46					0	0	0.009535	0	0
IRS4	8471	broad.mit.edu	37	X	107976487	107976487	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chrX:107976487C>A	ENST00000372129.2	-	1	3164	c.3088G>T	c.(3088-3090)Gct>Tct	p.A1030S		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	1030						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TCAGCAAGAGCCATGGCTGGT	0.478000													38	68					3.86236e-30	5.72874e-30	0.014410	1	0
SOX3	6658	broad.mit.edu	37	X	139586818	139586818	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chrX:139586818C>A	ENST00000370536.2	-	1	407	c.408G>T	c.(406-408)caG>caT	p.Q136H		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	136					face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					TCACACGGTCCTGGTCTGTAC	0.662000													25	40					1.16021e-09	1.34951e-09	0.007291	1	0
PCDH9	5101	broad.mit.edu	37	13	67799571	67799571	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr13:67799571C>A	ENST00000544246.1	-	2	3693	c.3002G>T	c.(3001-3003)gGc>gTc	p.G1001V	PCDH9_ENST00000377865.2_Missense_Mutation_p.G1001V|PCDH9_ENST00000328454.5_Missense_Mutation_p.G1001V|PCDH9_ENST00000456367.1_Missense_Mutation_p.G1001V|PCDH9_ENST00000377861.3_Missense_Mutation_p.G1001V	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	1001					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G1001D(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TGTCTTGAAGCCTCCTTGGGA	0.478000													46	15					2.81731e-22	3.91588e-22	0.014410	1	0
NEB	4703	broad.mit.edu	37	2	152426796	152426796	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr2:152426796A>C	ENST00000427231.2	-	109	17431	c.17229T>G	c.(17227-17229)aaT>aaG	p.N5743K	NEB_ENST00000397345.3_Missense_Mutation_p.N5743K|NEB_ENST00000409198.1_Missense_Mutation_p.N4042K|NEB_ENST00000172853.10_Missense_Mutation_p.N4042K|NEB_ENST00000603639.1_Missense_Mutation_p.N5743K|NEB_ENST00000604864.1_Missense_Mutation_p.N5743K	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	5756					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACTCTCGTTCATTCTGGAGCT	0.552000													10	27					0	0	0.013537	0	0
TIMM17B	10245	broad.mit.edu	37	X	48754090	48754090	+	Silent	SNP	G	G	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chrX:48754090G>T	ENST00000396779.3	-	3	226	c.78C>A	c.(76-78)atC>atA	p.I26I	TIMM17B_ENST00000466995.1_5'UTR|TIMM17B_ENST00000376582.3_Silent_p.I26I	NM_001167947.1	NP_001161419.1	O60830	TI17B_HUMAN	translocase of inner mitochondrial membrane 17 homolog B (yeast)	26					protein targeting to mitochondrion	integral to membrane|microtubule cytoskeleton|mitochondrial inner membrane presequence translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6						CTCCGCCACCGATGACACCCA	0.582000													14	29					1.5739e-10	1.88017e-10	0.004007	1	0
NACA	4666	broad.mit.edu	37	12	57110315	57110315	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr12:57110315G>A	ENST00000454682.1	-	3	5280	c.4999C>T	c.(4999-5001)Caa>Taa	p.Q1667*	NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TTAGATGCTTGAGGAACAGTG	0.537000			T	BCL6	NHL								3	5					0	0	0.004672	0	0
CYP4F12	66002	broad.mit.edu	37	19	15791312	15791312	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr19:15791312A>T	ENST00000550308.1	+	5	888	c.508A>T	c.(508-510)Agt>Tgt	p.S170C	CYP4F12_ENST00000324632.9_Missense_Mutation_p.S170C	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CTTCAACAAGAGTGCAAACAT	0.527000													11	28					0	0	0.020292	0	0
MMP14	4323	broad.mit.edu	37	14	23306131	23306131	+	Silent	SNP	C	C	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr14:23306131C>T	ENST00000311852.6	+	1	366	c.105C>T	c.(103-105)ccC>ccT	p.P35P	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	35						extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		GCTTCAGCCCCGAAGTAAGTG	0.706000											OREG0022586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	63					0	0	0.009096	0	0
CDH18	1016	broad.mit.edu	37	5	19473547	19473547	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr5:19473547C>A	ENST00000507958.1	-	15	3151	c.2161G>T	c.(2161-2163)Gca>Tca	p.A721S	CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000382275.1_Missense_Mutation_p.A721S|CDH18_ENST00000274170.4_Missense_Mutation_p.A721S			Q13634	CAD18_HUMAN	cadherin 18, type 2	721					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A721S(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)					TCTGCTTCTGCCAGTCTTTGC	0.498000													33	265					3.90053e-15	4.92581e-15	0.012213	1	0
ZNF681	148213	broad.mit.edu	37	19	23926607	23926607	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr19:23926607C>T	ENST00000402377.3	-	4	1886	c.1745G>A	c.(1744-1746)aGa>aAa	p.R582K	ZNF681_ENST00000395385.3_Missense_Mutation_p.R513K	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	582					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AGTATGAATTCTCTTATGTCT	0.393000													13	41					0	0	0.013537	0	0
SH3BGRL	6451	broad.mit.edu	37	X	80552722	80552722	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chrX:80552722C>A	ENST00000373212.5	+	4	599	c.341C>A	c.(340-342)gCa>gAa	p.A114E	SH3BGRL_ENST00000481106.1_3'UTR	NM_003022.2	NP_003013.1	O75368	SH3L1_HUMAN	SH3 domain binding glutamic acid-rich protein like	114						cytoplasm|nucleus	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|lung(2)|ovary(1)	4		all_lung(315;5.94e-05)				AAGCAGCAAGCATGAACCTTA	0.358000													35	69					2.6416e-12	3.26142e-12	0.006230	1	0
KIAA2022	340533	broad.mit.edu	37	X	73962891	73962891	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chrX:73962891C>A	ENST00000373468.1	-	3	2152	c.1501G>T	c.(1501-1503)Ggt>Tgt	p.G501C	KIAA2022_ENST00000055682.5_Missense_Mutation_p.G501C			Q5QGS0	K2022_HUMAN	KIAA2022	501					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						ACTTTTTCACCCTCTAGTGAG	0.428000													53	73					1.00798e-23	1.41888e-23	0.014410	1	0
PRICKLE1	144165	broad.mit.edu	37	12	42854161	42854161	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr12:42854161T>A	ENST00000455697.1	-	8	2231	c.1946A>T	c.(1945-1947)cAg>cTg	p.Q649L	PRICKLE1_ENST00000445766.2_Missense_Mutation_p.Q649L|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.Q649L|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.Q649L|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.Q649L|RP11-328C8.4_ENST00000547824.1_RNA	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	649					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		CATCGGAGGCTGCCGGATTTC	0.522000													33	53					0	0	0.007835	0	0
PPIE	10450	broad.mit.edu	37	1	40207573	40207573	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr1:40207573G>A	ENST00000324379.5	+	4	200	c.181G>A	c.(181-183)Gca>Aca	p.A61T	PPIE_ENST00000470213.1_Missense_Mutation_p.A61T|PPIE_ENST00000372830.1_Missense_Mutation_p.A61T|PPIE_ENST00000356511.2_Missense_Mutation_p.A61T|PPIE_ENST00000480169.1_3'UTR	NM_006112.3	NP_006103.1	Q9UNP9	PPIE_HUMAN	peptidylprolyl isomerase E (cyclophilin E)	61	Poly-Ala.|RRM.				protein folding|regulation of transcription, DNA-dependent	catalytic step 2 spliceosome	cyclosporin A binding|nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|RNA binding			kidney(3)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	9	all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GCAGGATGCTGCAGCAGCTAT	0.413000													20	142					0	0	0.021523	0	0
TEX15	56154	broad.mit.edu	37	8	30699884	30699884	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr8:30699884G>A	ENST00000256246.2	-	1	6724	c.6650C>T	c.(6649-6651)tCt>tTt	p.S2217F		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2217										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CCTAGGGGCAGACATTACATT	0.353000													12	137					0	0	0.020292	0	0
ADGRG6	57211	broad.mit.edu	37	6	142729338	142729338	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr6:142729338A>G	ENST00000230173.6	+	16	2796	c.2320A>G	c.(2320-2322)Att>Gtt	p.I774V	GPR126_ENST00000367609.3_Missense_Mutation_p.I774V|GPR126_ENST00000367608.2_Missense_Mutation_p.I746V|GPR126_ENST00000296932.8_Missense_Mutation_p.I746V	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	774					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		GGCGTGCAGTATTGGAAACAT	0.358000													14	14					0	0	0.020292	0	0
ENPP3	5169	broad.mit.edu	37	6	132014711	132014711	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr6:132014711C>A	ENST00000414305.1	+	16	1687	c.1359C>A	c.(1357-1359)aaC>aaA	p.N453K	ENPP3_ENST00000357639.3_Missense_Mutation_p.N453K|ENPP3_ENST00000358229.5_Missense_Mutation_p.N453K			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	453	Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		ATGCCAAGAACGTCAGAATCG	0.393000													33	164					2.09667e-21	2.87803e-21	0.017118	1	0
CRYGN	155051	broad.mit.edu	37	7	151135181	151135181	+	Silent	SNP	G	G	A			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr7:151135181G>A	ENST00000337323.2	-	2	297	c.171C>T	c.(169-171)ttC>ttT	p.F57F	RP4-555L14.4_ENST00000465549.1_RNA|CRYGN_ENST00000476631.1_5'UTR	NM_144727.1	NP_653328.1	Q8WXF5	CRGN_HUMAN	crystallin, gamma N	57	Beta/gamma crystallin 'Greek key' 2.									central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTGGCCCCGGAAGTCGGGGT	0.602000													15	51					0	0	0.004990	0	0
C4orf21	55345	broad.mit.edu	37	4	113505306	113505306	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr4:113505306C>G	ENST00000505019.1	-	15	4251	c.4126G>C	c.(4126-4128)Gga>Cga	p.G1376R		NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	0										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)		GCTTTGGGTCCATCACATGTA	0.373000													19	3					0	0	0.007413	0	0
MLKL	197259	broad.mit.edu	37	16	74729467	74729467	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr16:74729467G>T	ENST00000308807.7	-	2	652	c.189C>A	c.(187-189)aaC>aaA	p.N63K	MLKL_ENST00000306247.7_Missense_Mutation_p.N63K	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like	63							ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						CCTTGAAGCGGTTCATGGCTG	0.537000													30	58					2.75727e-19	3.76146e-19	0.021022	1	0
SCML2	10389	broad.mit.edu	37	X	18278317	18278317	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chrX:18278317C>G	ENST00000251900.4	-	9	1202	c.1043G>C	c.(1042-1044)gGg>gCg	p.G348A	SCML2_ENST00000398048.3_Missense_Mutation_p.G84A	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	348					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.G348V(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					TTTACATGGCCCAGAAGCGAC	0.353000													34	52					0	0	0.007835	0	0
ZBTB32	27033	broad.mit.edu	37	19	36207448	36207448	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr19:36207448C>A	ENST00000392197.2	+	7	1576	c.1258C>A	c.(1258-1260)Ctg>Atg	p.L420M	ZBTB32_ENST00000262630.3_Missense_Mutation_p.L420M			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	420					DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GACCAAGCACCTGCGGACACA	0.687000											OREG0025433	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	80					6.33695e-27	9.33644e-27	0.007835	1	0
MEGF6	1953	broad.mit.edu	37	1	3496416	3496417	+	Frame_Shift_Ins	INS	-	-	G	rs115018369	by1000genomes	TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr1:3496416_3496417insG	ENST00000356575.4	-	4	679_680	c.453_454insC	c.(451-456)ccgcttfs	p.L152fs		NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	152	EGF-like 1.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CCCTGGAAGCCGGGGGGACAGT	0.663													2	4	---	---	---	---					
RPS10P7	376693	broad.mit.edu	37	1	201489731	201489731	+	RNA	DEL	G	G	-	rs4915234	by1000genomes	TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr1:201489731delG	ENST00000441932.1	+	0	1901				RP11-134G8.7_ENST00000454651.1_RNA	NR_026667.1																						AAAAAaaaaagaaagaaagct	0.423													3	5	---	---	---	---					
CDK18	5129	broad.mit.edu	37	1	205497018	205497019	+	Frame_Shift_Ins	INS	-	-	G			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr1:205497018_205497019insG	ENST00000360066.2	+	9	1127_1128	c.826_827insG	c.(826-828)gggfs	p.G276fs	CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000506784.1_Frame_Shift_Ins_p.G306fs|CDK18_ENST00000429964.2_Frame_Shift_Ins_p.G276fs	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	274	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						CATCAACGAGAGGGGGGAGCTG	0.639													11	368	---	---	---	---					
PTPN18	26469	broad.mit.edu	37	2	131129929	131129934	+	In_Frame_Del	DEL	GACGGG	GACGGG	-	rs112040677		TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr2:131129929_131129934delGACGGG	ENST00000175756.5	+	13	1214_1219	c.1113_1118delGACGGG	c.(1111-1119)cag>ca	p.QTG371del	PTPN18_ENST00000347849.3_In_Frame_Del_p.QTG264del	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	371						cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	p.T378_G379delTG(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					gtgggacgcagacggggacggggacg	0.777													3	5	---	---	---	---					
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr3:100148586_100148588delGAT	ENST00000383693.3	+	2	1293_1295	c.13_15delGAT	c.(13-15)del	p.D10del	LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	10	Poly-Asp.									cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGAGCACAAAGATGATGATGATG	0.507													7	822	---	---	---	---					
DNAH5	1767	broad.mit.edu	37	5	13919382	13919383	+	Frame_Shift_Ins	INS	-	-	T			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr5:13919382_13919383insT	ENST00000265104.4	-	7	981_982	c.877_878insA	c.(877-879)actfs	p.T293fs		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	293	Stem (By similarity).				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)					CTTGGAGAGTCTTTTTTTCCAG	0.520									Kartagener syndrome				8	1697	---	---	---	---					
ERCC6	2074	broad.mit.edu	37	10	50732305	50732305	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr10:50732305delC	ENST00000355832.5	-	5	1249	c.1171delG	c.(1171-1173)cafs	p.A391fs	PGBD3_ENST00000603152.1_Frame_Shift_Del_p.A391fs|ERCC6-PGBD3_ENST00000447839.2_Frame_Shift_Del_p.A391fs|ERCC6-PGBD3_ENST00000515869.1_Frame_Shift_Del_p.A391fs	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	391	Asp/Glu-rich (acidic).				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						tccgcctctgccccctccacc	0.567								Direct reversal of damage;Nucleotide excision repair (NER)					17	22	---	---	---	---					
ZDHHC6	64429	broad.mit.edu	37	10	114194168	114194168	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr10:114194168delC	ENST00000369405.3	-	7	1213	c.790delG	c.(790-792)atfs	p.D264fs	ZDHHC6_ENST00000369404.3_Frame_Shift_Del_p.D260fs	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	264						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		CTTCCCATATCATATGGAAAA	0.428													16	98	---	---	---	---					
CHRM4	1132	broad.mit.edu	37	11	46407277	46407278	+	Frame_Shift_Ins	INS	-	-	G			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr11:46407277_46407278insG	ENST00000433765.2	-	1	829_830	c.830_831insC	c.(829-831)cccfs	p.P277fs		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	277					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	GCAGCGCTGGCGGGGGGGCCTC	0.668													2	4	---	---	---	---					
MED15P1	326615	broad.mit.edu	37	14	19500074	19500074	+	RNA	DEL	G	G	-			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr14:19500074delG	ENST00000552968.1	-	0	495																											GCTTCCGGGTGCACACCACTG	0.637													2	4	---	---	---	---					
ZNF66	7617	broad.mit.edu	37	19	20990110	20990111	+	Frame_Shift_Ins	INS	-	-	G			TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr19:20990110_20990111insG	ENST00000344519.8	+	4	1727_1728	c.1704_1705insG	c.(1702-1707)gaatgtfs	p.C569fs	ZNF66_ENST00000425625.1_Intron																							ACAAATGTGAAAATGTGGCAAA	0.381													10	27	---	---	---	---					
CARD10	29775	broad.mit.edu	37	22	37900248	37900249	+	Frame_Shift_Ins	INS	-	-	G	rs35832225		TCGA-17-Z051-01A-01W-0747-08	TCGA-17-Z051-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5584878f-0608-45d9-8e28-29c277bf655f	a1da7605-ca70-4b1a-8d30-c95650bcfa52	g.chr22:37900248_37900249insG	ENST00000403299.1	-	10	1794_1795	c.1578_1579insC	c.(1576-1581)ccgtgcfs	p.C527fs	CARD10_ENST00000406271.3_Frame_Shift_Ins_p.C241fs|CARD10_ENST00000251973.5_Frame_Shift_Ins_p.C527fs			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	527					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					GAGCCGGCACTGGGGGGGAAGG	0.639													4	6	---	---	---	---					
