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
SIGLEC16	400709	broad.mit.edu	37	19	50474626	50474626	+	RNA	SNP	G	G	T			TCGA-EM-A4FH-01A-11D-A257-08	TCGA-EM-A4FH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ad41f60-e79a-4db3-9c26-8e74cf80c34c	c93a2e43-26fb-461a-a9ab-60b52d591e61	g.chr19:50474626G>T	ENST00000602139.1	+	0	983									sialic acid binding Ig-like lectin 16 (gene/pseudogene)											endometrium(2)|kidney(2)|lung(6)	10						GCGAGCCCTGGACCTCTCTGT	0.667000													29	60					6.53348e-20	7.72138e-20	1	1	0
EFCAB14	9813	broad.mit.edu	37	1	47144234	47144234	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A4FH-01A-11D-A257-08	TCGA-EM-A4FH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ad41f60-e79a-4db3-9c26-8e74cf80c34c	c93a2e43-26fb-461a-a9ab-60b52d591e61	g.chr1:47144234G>T	ENST00000371933.3	-	11	2363	c.1387C>A	c.(1387-1389)Cta>Ata	p.L463I	EFCAB14_ENST00000544071.1_Intron|EFCAB14-AS1_ENST00000442839.1_RNA|EFCAB14-AS1_ENST00000418985.1_RNA	NM_014774.2	NP_055589.1			EF-hand calcium binding domain 14																		GCAGAACCTAGGGAGGTCCAG	0.453000													17	42					3.51602e-12	3.97463e-12	1	1	0
CNST	163882	broad.mit.edu	37	1	246810626	246810626	+	Missense_Mutation	SNP	A	A	T			TCGA-EM-A4FH-01A-11D-A257-08	TCGA-EM-A4FH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ad41f60-e79a-4db3-9c26-8e74cf80c34c	c93a2e43-26fb-461a-a9ab-60b52d591e61	g.chr1:246810626A>T	ENST00000366513.4	+	9	1392	c.1123A>T	c.(1123-1125)Acc>Tcc	p.T375S	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Missense_Mutation_p.T375S	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	375					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						AGCGCTCCACACCCAGTCCTC	0.587000											OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	50	55					0	0	1	0	0
TBP	6908	broad.mit.edu	37	6	170871088	170871088	+	Silent	SNP	G	G	A			TCGA-EM-A4FH-01A-11D-A257-08	TCGA-EM-A4FH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ad41f60-e79a-4db3-9c26-8e74cf80c34c	c93a2e43-26fb-461a-a9ab-60b52d591e61	g.chr6:170871088G>A	ENST00000392092.2	+	3	543	c.264G>A	c.(262-264)caG>caA	p.Q88Q	TBP_ENST00000540980.1_Silent_p.Q68Q|TBP_ENST00000230354.6_Silent_p.Q88Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	88	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q88Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.612000													5	55					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38119859	38119859	+	Silent	SNP	C	C	T	rs66505048		TCGA-EM-A4FH-01A-11D-A257-08	TCGA-EM-A4FH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ad41f60-e79a-4db3-9c26-8e74cf80c34c	c93a2e43-26fb-461a-a9ab-60b52d591e61	g.chr22:38119859C>T	ENST00000406386.3	+	7	1551	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	432					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	p.C432C(6)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAACATCCTGCGCCCAGCGGG	0.582000													4	104					0	0	1	0	0
ARRB2	409	broad.mit.edu	37	17	4619828	4619828	+	Silent	SNP	A	A	C			TCGA-EM-A4FH-01A-11D-A257-08	TCGA-EM-A4FH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ad41f60-e79a-4db3-9c26-8e74cf80c34c	c93a2e43-26fb-461a-a9ab-60b52d591e61	g.chr17:4619828A>C	ENST00000269260.2	+	5	515	c.282A>C	c.(280-282)ccA>ccC	p.P94P	ARRB2_ENST00000412477.3_Silent_p.P94P|ARRB2_ENST00000381488.6_Silent_p.P79P|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000346341.2_Silent_p.P79P|ARRB2_ENST00000575877.1_Silent_p.P94P|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000570718.1_3'UTR	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	94					cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						TGCCCAACCCACCCCGGCCCC	0.667000													5	16					0	0	1	0	0
CXCL3	2921	broad.mit.edu	37	4	74904084	74904084	+	Silent	SNP	C	C	T			TCGA-EM-A4FH-01A-11D-A257-08	TCGA-EM-A4FH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ad41f60-e79a-4db3-9c26-8e74cf80c34c	c93a2e43-26fb-461a-a9ab-60b52d591e61	g.chr4:74904084C>T	ENST00000296026.4	-	2	224	c.147G>A	c.(145-147)ctG>ctA	p.L49L	CXCL3_ENST00000511669.1_5'UTR	NM_002090.2	NP_002081.2	P19876	CXCL3_HUMAN	chemokine (C-X-C motif) ligand 3	49					immune response|inflammatory response|neutrophil chemotaxis	extracellular space	chemokine activity			central_nervous_system(1)|endometrium(1)	2	Breast(15;0.00612)		all cancers(17;0.00273)|Lung(101;0.196)			GAATTCCCTGCAGTGTCTGCA	0.612000													10	119					0	0	1	0	0
GLIS3	169792	broad.mit.edu	37	9	4118110	4118110	+	Silent	SNP	T	T	G			TCGA-EM-A4FH-01A-11D-A257-08	TCGA-EM-A4FH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ad41f60-e79a-4db3-9c26-8e74cf80c34c	c93a2e43-26fb-461a-a9ab-60b52d591e61	g.chr9:4118110T>G	ENST00000324333.10	-	3	1096	c.903A>C	c.(901-903)ccA>ccC	p.P301P	GLIS3_ENST00000381971.3_Silent_p.P456P	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	301	Pro-rich.		P -> Q (in dbSNP:rs6415788).		negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		gtggggggcctgggggcggcg	0.731000													6	15					0	0	1	0	0
RPS2	6187	broad.mit.edu	37	16	2013180	2013180	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A4FH-01A-11D-A257-08	TCGA-EM-A4FH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ad41f60-e79a-4db3-9c26-8e74cf80c34c	c93a2e43-26fb-461a-a9ab-60b52d591e61	g.chr16:2013180C>A	ENST00000529806.1	-	2	441	c.255G>T	c.(253-255)caG>caT	p.Q85H	RPS2_ENST00000526522.1_Missense_Mutation_p.Q115H|RPS2_ENST00000343262.4_Missense_Mutation_p.Q115H|RPS2_ENST00000530225.1_Missense_Mutation_p.Q115H			P15880	RS2_HUMAN	ribosomal protein S2	115					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|RNA binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						CGGCACGGGTCTGCTTCTGCA	0.542000													6	6					3.59834e-05	3.8982e-05	1	1	0
RBM10	8241	broad.mit.edu	37	X	47039364	47039364	+	Silent	SNP	C	C	A			TCGA-EM-A4FH-01A-11D-A257-08	TCGA-EM-A4FH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ad41f60-e79a-4db3-9c26-8e74cf80c34c	c93a2e43-26fb-461a-a9ab-60b52d591e61	g.chrX:47039364C>A	ENST00000377604.3	+	10	1729	c.987C>A	c.(985-987)tcC>tcA	p.S329S	RBM10_ENST00000329236.7_Silent_p.S252S|RBM10_ENST00000345781.6_Silent_p.S252S|RBM10_ENST00000468791.1_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	329	RRM 2.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						TGTCCTCCTCCAACGTGCGCG	0.622000													3	21					0.004672	0.004672	1	1	0
SPESP1	246777	broad.mit.edu	37	15	69222942	69222942	+	Translation_Start_Site	SNP	G	G	A			TCGA-EM-A4FH-01A-11D-A257-08	TCGA-EM-A4FH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ad41f60-e79a-4db3-9c26-8e74cf80c34c	c93a2e43-26fb-461a-a9ab-60b52d591e61	g.chr15:69222942G>A	ENST00000310673.3	+	0	104				NOX5_ENST00000260364.5_De_novo_Start_InFrame|RP11-809H16.2_ENST00000557966.1_RNA|SPESP1_ENST00000560188.1_Intron|NOX5_ENST00000448182.3_De_novo_Start_InFrame	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1						multicellular organismal development	acrosomal vesicle				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						TTCCCAGCCTGGTGGCCCCAG	0.622000													8	75					0	0	1	0	0
PAX8	7849	broad.mit.edu	37	2	114002079	114002079	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A4FH-01A-11D-A257-08	TCGA-EM-A4FH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ad41f60-e79a-4db3-9c26-8e74cf80c34c	c93a2e43-26fb-461a-a9ab-60b52d591e61	g.chr2:114002079C>A	ENST00000429538.3	-	4	508	c.314G>T	c.(313-315)tGg>tTg	p.W105L	PAX8_ENST00000397647.3_Missense_Mutation_p.W105L|PAX8_ENST00000348715.5_Missense_Mutation_p.W105L|PAX8_ENST00000263334.5_Missense_Mutation_p.W105L|PAX8_ENST00000263335.7_Missense_Mutation_p.W105L|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000422956.1_RNA|AC016683.6_ENST00000333145.5_RNA|AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000445745.1_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	105	Paired.				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						TCGGATCTCCCAGGCAAACAT	0.582000			T	PPARG	follicular thyroid		Thyroid dysgenesis						8	252					0.000274275	0.000285246	1	1	0
FOLR2	2350	broad.mit.edu	37	11	71932697	71932697	+	Missense_Mutation	SNP	C	C	T	rs140546240		TCGA-EM-A4FH-01A-11D-A257-08	TCGA-EM-A4FH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ad41f60-e79a-4db3-9c26-8e74cf80c34c	c93a2e43-26fb-461a-a9ab-60b52d591e61	g.chr11:71932697C>T	ENST00000449475.2	+	5	945	c.647C>T	c.(646-648)gCg>gTg	p.A216V	FOLR2_ENST00000454954.2_Missense_Mutation_p.A179V|FOLR2_ENST00000298223.6_Missense_Mutation_p.A220V			P14207	FOLR2_HUMAN	folate receptor 2 (fetal)	220					folic acid transport	anchored to membrane|extracellular region|membrane fraction|plasma membrane	folic acid binding|receptor activity			breast(3)|large_intestine(3)|ovary(1)|skin(1)	8					Folic Acid(DB00158)	GAGGAAGTGGCGAGGTTCTAT	0.577000													29	41					0	0	1	0	0
EFCAB14	9813	broad.mit.edu	37	1	47144235	47144235	+	Silent	SNP	G	G	A			TCGA-EM-A4FH-01A-11D-A257-08	TCGA-EM-A4FH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ad41f60-e79a-4db3-9c26-8e74cf80c34c	c93a2e43-26fb-461a-a9ab-60b52d591e61	g.chr1:47144235G>A	ENST00000371933.3	-	11	2362	c.1386C>T	c.(1384-1386)tcC>tcT	p.S462S	EFCAB14_ENST00000544071.1_Intron|EFCAB14-AS1_ENST00000442839.1_RNA|EFCAB14-AS1_ENST00000418985.1_RNA	NM_014774.2	NP_055589.1			EF-hand calcium binding domain 14																		CAGAACCTAGGGAGGTCCAGA	0.453000													17	42					0	0	1	0	0
PPP1R7	5510	broad.mit.edu	37	2	242089953	242089953	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A4FH-01A-11D-A257-08	TCGA-EM-A4FH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ad41f60-e79a-4db3-9c26-8e74cf80c34c	c93a2e43-26fb-461a-a9ab-60b52d591e61	g.chr2:242089953A>G	ENST00000234038.6	+	1	517	c.43A>G	c.(43-45)Atg>Gtg	p.M15V	PPP1R7_ENST00000404405.3_Missense_Mutation_p.M15V|PPP1R7_ENST00000402734.1_Intron|PPP1R7_ENST00000401987.1_Missense_Mutation_p.M15V|PPP1R7_ENST00000272983.8_Missense_Mutation_p.M15V|PPP1R7_ENST00000407025.1_Missense_Mutation_p.M15V|PPP1R7_ENST00000406106.3_Missense_Mutation_p.M15V	NM_002712.1	NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	15						cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		GTCGCAGGAGATGATGGAGGG	0.697000													3	25					0	0	1	0	0
TXNDC2	0	broad.mit.edu	37	18	9886894	9886894	+	Missense_Mutation	SNP	A	A	G	rs146821851		TCGA-EM-A4FH-01A-11D-A257-08	TCGA-EM-A4FH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ad41f60-e79a-4db3-9c26-8e74cf80c34c	c93a2e43-26fb-461a-a9ab-60b52d591e61	g.chr18:9886894A>G	ENST00000306084.6	+	2	617	c.418A>G	c.(418-420)Aaa>Gaa	p.K140E	TXNDC2_ENST00000357775.4_Missense_Mutation_p.K73E|TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000584255.1_3'UTR|TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	140	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	p.K140E(2)|p.K73E(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GTCCTCAGAAAAAGCCATCCA	0.547000													4	138					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73677492	73677492	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A4FH-01A-11D-A257-08	TCGA-EM-A4FH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ad41f60-e79a-4db3-9c26-8e74cf80c34c	c93a2e43-26fb-461a-a9ab-60b52d591e61	g.chr2:73677492G>A	ENST00000264448.6	+	8	3946	c.3835G>A	c.(3835-3837)Gct>Act	p.A1279T	ALMS1_ENST00000409009.1_Missense_Mutation_p.A1237T|ALMS1_ENST00000377715.1_Missense_Mutation_p.A1279T	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1279	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		p.A1279T(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TGGCACACCAGCTGTAACCTC	0.433000													4	123					0	0	1	0	0
PADI6	353238	broad.mit.edu	37	1	17721722	17721723	+	RNA	DEL	GA	GA	-	rs58784721		TCGA-EM-A4FH-01A-11D-A257-08	TCGA-EM-A4FH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ad41f60-e79a-4db3-9c26-8e74cf80c34c	c93a2e43-26fb-461a-a9ab-60b52d591e61	g.chr1:17721722_17721723delGA	ENST00000434762.2	+	0	1545							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	tttgttttttgagagtcttgct	0.485													4	6	---	---	---	---					
MACF1	23499	broad.mit.edu	37	1	39799059	39799060	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EM-A4FH-01A-11D-A257-08	TCGA-EM-A4FH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ad41f60-e79a-4db3-9c26-8e74cf80c34c	c93a2e43-26fb-461a-a9ab-60b52d591e61	g.chr1:39799059_39799060insG	ENST00000564288.1	+	37	7576_7577	c.6799_6800insG	c.(6799-6801)ggafs	p.G2267fs	MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Frame_Shift_Ins_p.G2272fs|MACF1_ENST00000289893.4_Frame_Shift_Ins_p.G707fs|MACF1_ENST00000567887.1_Frame_Shift_Ins_p.G2304fs|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2272					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGATAGTGGCAGGGAAATTTTT	0.391													19	56	---	---	---	---					
RP11-584P21.2	0	broad.mit.edu	37	4	68311813	68311814	+	RNA	INS	-	-	ACCGCCACCGCC	rs11267830	by1000genomes	TCGA-EM-A4FH-01A-11D-A257-08	TCGA-EM-A4FH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ad41f60-e79a-4db3-9c26-8e74cf80c34c	c93a2e43-26fb-461a-a9ab-60b52d591e61	g.chr4:68311813_68311814insACCGCCACCGCC	ENST00000502400.1	-	0	34																											ccgctaccgctaccgccaccgc	0.639													4	3	---	---	---	---					
HLA-DRB6	0	broad.mit.edu	37	6	32523362	32523363	+	RNA	INS	-	-	GATA	rs142676080	by1000genomes	TCGA-EM-A4FH-01A-11D-A257-08	TCGA-EM-A4FH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ad41f60-e79a-4db3-9c26-8e74cf80c34c	c93a2e43-26fb-461a-a9ab-60b52d591e61	g.chr6:32523362_32523363insGATA	ENST00000411500.1	-	0	458					NR_001298.1																						AAAGCAATGTGGATAAAGGGAC	0.431													4	5	---	---	---	---					
MUC3A	4584	broad.mit.edu	37	7	100609618	100609619	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EM-A4FH-01A-11D-A257-08	TCGA-EM-A4FH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ad41f60-e79a-4db3-9c26-8e74cf80c34c	c93a2e43-26fb-461a-a9ab-60b52d591e61	g.chr7:100609618_100609619insT	ENST00000319509.7	+	8	2350_2351	c.2350_2351insT	c.(2350-2352)gacfs	p.D784fs	RP11-395B7.2_ENST00000420080.1_RNA					mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GGTCGGGGGCCTGACGGCCGGC	0.757													5	10	---	---	---	---					
LTBP3	4054	broad.mit.edu	37	11	65318671	65318671	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EM-A4FH-01A-11D-A257-08	TCGA-EM-A4FH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ad41f60-e79a-4db3-9c26-8e74cf80c34c	c93a2e43-26fb-461a-a9ab-60b52d591e61	g.chr11:65318671delG	ENST00000301873.5	-	11	1914	c.1646delC	c.(1645-1647)cgfs	p.P549fs	LTBP3_ENST00000536982.1_Frame_Shift_Del_p.P175fs|LTBP3_ENST00000322147.4_Frame_Shift_Del_p.P549fs	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	549						extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						GCGCATGGTCGGGGGCGAGGG	0.647													2	4	---	---	---	---					
RP11-551L14.1	0	broad.mit.edu	37	12	31269189	31269190	+	RNA	INS	-	-	ATCAT	rs35880498		TCGA-EM-A4FH-01A-11D-A257-08	TCGA-EM-A4FH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ad41f60-e79a-4db3-9c26-8e74cf80c34c	c93a2e43-26fb-461a-a9ab-60b52d591e61	g.chr12:31269189_31269190insATCAT	ENST00000542490.1	-	0	165																				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						CATGAGAACTCATTACCATGAT	0.351													2	4	---	---	---	---					
TRAV9-2	0	broad.mit.edu	37	14	22409533	22409539	+	RNA	DEL	CTCTCTC	CTCTCTC	-	rs57759840		TCGA-EM-A4FH-01A-11D-A257-08	TCGA-EM-A4FH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ad41f60-e79a-4db3-9c26-8e74cf80c34c	c93a2e43-26fb-461a-a9ab-60b52d591e61	g.chr14:22409533_22409539delCTCTCTC	ENST00000390441.2	+	0	102																											ctctctctctctctctctTTTTTTTTT	0.415													4	4	---	---	---	---					
RP5-991G20.1	0	broad.mit.edu	37	16	72763869	72763869	+	RNA	DEL	A	A	-			TCGA-EM-A4FH-01A-11D-A257-08	TCGA-EM-A4FH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ad41f60-e79a-4db3-9c26-8e74cf80c34c	c93a2e43-26fb-461a-a9ab-60b52d591e61	g.chr16:72763869delA	ENST00000563328.2	+	0	164																											GGTCCAAAACAAAAAAAAAAA	0.433													3	4	---	---	---	---					
CCDC155	147872	broad.mit.edu	37	19	49920666	49920668	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-EM-A4FH-01A-11D-A257-08	TCGA-EM-A4FH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ad41f60-e79a-4db3-9c26-8e74cf80c34c	c93a2e43-26fb-461a-a9ab-60b52d591e61	g.chr19:49920666_49920668delCTG	ENST00000447857.3	+	20	1793_1795	c.1588_1590delCTG	c.(1588-1590)del	p.L536del		NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN	coiled-coil domain containing 155	536	Poly-Leu.					integral to membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						TGTCCTGGGCctgctgctgctgc	0.650													3	5	---	---	---	---					
CSF2RB	1439	broad.mit.edu	37	22	37333749	37333750	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EM-A4FH-01A-11D-A257-08	TCGA-EM-A4FH-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ad41f60-e79a-4db3-9c26-8e74cf80c34c	c93a2e43-26fb-461a-a9ab-60b52d591e61	g.chr22:37333749_37333750insG	ENST00000262825.5	+	14	2134_2135	c.1917_1918insG	c.(1915-1920)gcggggfs	p.AG639fs	CSF2RB_ENST00000536485.1_Frame_Shift_Ins_p.AG580fs|CSF2RB_ENST00000406230.1_Frame_Shift_Ins_p.AG639fs|CSF2RB_ENST00000403662.3_Frame_Shift_Ins_p.AG633fs	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	633					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GTCTGCCTGCTGGGGGGCAGGT	0.688													2	4	---	---	---	---					
