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
SCNN1G	6340	broad.mit.edu	37	16	23197657	23197657	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr16:23197657C>A	ENST00000300061.2	+	2	208	c.65C>A	c.(64-66)gCg>gAg	p.A22E		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	22					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	GGCCCTCAGGCGCCGACCATT	0.612000													16	23					1.02788e-11	1.18304e-11	1	1	0
NEU3	10825	broad.mit.edu	37	11	74717144	74717144	+	Silent	SNP	T	T	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr11:74717144T>A	ENST00000294064.4	+	3	1920	c.993T>A	c.(991-993)tcT>tcA	p.S331S	NEU3_ENST00000529024.1_Intron|NEU3_ENST00000531509.1_Silent_p.S331S|NEU3_ENST00000545272.1_Silent_p.S222S|NEU3_ENST00000544263.1_Silent_p.S298S|NEU3_ENST00000532963.1_3'UTR	NM_006656.5	NP_006647.3	A8K327	A8K327_HUMAN	sialidase 3 (membrane sialidase)	331										kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						GCCAGGACTCTAGCAGCAAAG	0.572000													20	19					0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133358906	133358906	+	Silent	SNP	T	T	C			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr12:133358906T>C	ENST00000204726.3	-	17	3999	c.3441A>G	c.(3439-3441)gcA>gcG	p.A1147A	GOLGA3_ENST00000456883.2_Silent_p.A1147A|GOLGA3_ENST00000450791.2_Silent_p.A1147A	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	1147					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GGACTAGGTCTGCCTCCCTCT	0.547000													7	118					0	0	1	0	0
AMELX	265	broad.mit.edu	37	X	11317075	11317075	+	Silent	SNP	G	G	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chrX:11317075G>A	ENST00000380712.3	+	6	662	c.594G>A	c.(592-594)aaG>aaA	p.K198K	AMELX_ENST00000380714.3_Silent_p.K184K|ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000380732.3_Intron|ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000337414.4_Intron|AMELX_ENST00000348912.4_Silent_p.K168K|ARHGAP6_ENST00000380736.1_Intron	NM_182680.1	NP_872621.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	184					cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						CAACAGACAAGACCAAGCGGG	0.542000													12	20					0	0	1	0	0
ZNF43	7594	broad.mit.edu	37	19	21991522	21991522	+	Silent	SNP	T	T	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr19:21991522T>A	ENST00000594012.1	-	7	1813	c.1299A>T	c.(1297-1299)tcA>tcT	p.S433S	ZNF43_ENST00000354959.4_Silent_p.S439S|ZNF43_ENST00000598381.1_Silent_p.S433S|ZNF43_ENST00000595461.1_Silent_p.S433S	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	439					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TAGTAAGGGTTGAGGGCCAGT	0.388000													27	45					0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70355278	70355278	+	Missense_Mutation	SNP	T	T	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr4:70355278T>A	ENST00000305107.6	-	3	927	c.881A>T	c.(880-882)gAg>gTg	p.E294V	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Missense_Mutation_p.E294V|UGT2B4_ENST00000381096.3_Missense_Mutation_p.E158V	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	294					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CTGGACAAACTCTTCCATTTC	0.383000													32	167					0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77472399	77472399	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr15:77472399T>C	ENST00000560626.2	-	4	2345	c.1870A>G	c.(1870-1872)Atc>Gtc	p.I624V	PEAK1_ENST00000312493.4_Missense_Mutation_p.I624V|PEAK1_ENST00000558305.1_Missense_Mutation_p.I624V			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	624					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										GGAACTTTGATAGCATTTTTG	0.353000													22	77					0	0	1	0	0
TVP23A	780776	broad.mit.edu	37	16	10867944	10867944	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr16:10867944G>T	ENST00000299866.8	-	4	567	c.276C>A	c.(274-276)aaC>aaA	p.N92K	TVP23A_ENST00000572980.1_5'UTR	NM_001079512.2	NP_001072980.1			trans-golgi network vesicle protein 23 homolog A (S. cerevisiae)																		CATCTATCTGGTTCCACCATC	0.493000													4	13					0.00909568	0.00940401	1	1	0
PRR22	163154	broad.mit.edu	37	19	5783642	5783642	+	Silent	SNP	G	G	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr19:5783642G>A	ENST00000419421.2	-	3	720	c.616C>T	c.(616-618)Ctg>Ttg	p.L206L		NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	204	Pro-rich.									endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						TCTGGGGGCAGTGTGGGCTCT	0.706000													5	5					0	0	1	0	0
ZNF724P	0	broad.mit.edu	37	19	23405268	23405268	+	Silent	SNP	T	T	C			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr19:23405268T>C	ENST00000418100.1	-	4	1896	c.1779A>G	c.(1777-1779)aaA>aaG	p.K593K																	endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						TGCCACATTCTTTACATTTGT	0.368000													11	22					0	0	1	0	0
SRCRB4D	136853	broad.mit.edu	37	7	76033640	76033640	+	Silent	SNP	A	A	T			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr7:76033640A>T	ENST00000275560.3	-	2	464	c.117T>A	c.(115-117)ctT>ctA	p.L39L	ZP3_ENST00000336517.4_Intron	NM_080744.1	NP_542782.1	Q8WTU2	SRB4D_HUMAN	scavenger receptor cysteine rich domain containing, group B (4 domains)	39						extracellular region|membrane	scavenger receptor activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						GCAGGAGGAGAAGGAAAGACA	0.567000													6	11					0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189060990	189060990	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr4:189060990G>T	ENST00000332517.3	+	1	418	c.278G>T	c.(277-279)gGc>gTc	p.G93V		NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	93					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GATGAGCAGGGCAGCTACGGG	0.642000													22	29					5.26018e-13	6.17059e-13	1	1	0
TBL1XR1	79718	broad.mit.edu	37	3	176752004	176752004	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr3:176752004G>C	ENST00000430069.1	-	13	1491	c.1232C>G	c.(1231-1233)gCc>gGc	p.A411G	TBL1XR1_ENST00000457928.2_Missense_Mutation_p.A411G			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	411					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			CATAAGGTTGGCATTTGGATT	0.343000													12	49					0	0	1	0	0
TLE4	7091	broad.mit.edu	37	9	82187749	82187749	+	Splice_Site	SNP	C	C	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr9:82187749C>A	ENST00000376520.4	+	1	872	c.45_splice	c.e1+1	p.P15_splice	TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376537.4_Splice_Site_p.P15_splice|TLE4_ENST00000376544.3_Splice_Site_p.P15_splice|TLE4_ENST00000376552.2_Splice_Site_p.P15_splice|TLE4_ENST00000265284.6_Splice_Site_p.P15_splice			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						ACCAGACACCCAGTGAGTgcg	0.672000													3	33					1	1	1	1	0
AFM	173	broad.mit.edu	37	4	74351580	74351580	+	Splice_Site	SNP	A	A	T			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr4:74351580A>T	ENST00000226355.3	+	4	365	c.270_splice	c.e4-1	p.N91_splice		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	91	Albumin 1.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTTGTATAGAATAATGTTTTA	0.368000													17	32					0	0	1	0	0
RIMS1	0	broad.mit.edu	37	6	72889334	72889334	+	Silent	SNP	G	G	C			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr6:72889334G>C	ENST00000264839.7	+	5	528	c.528G>C	c.(526-528)ggG>ggC	p.G176G	RIMS1_ENST00000518273.1_Silent_p.G176G|RIMS1_ENST00000520567.1_Silent_p.G176G|RIMS1_ENST00000517960.1_Silent_p.G176G|RIMS1_ENST00000491071.2_Silent_p.G176G|RIMS1_ENST00000522291.1_Silent_p.G176G|RIMS1_ENST00000348717.5_Silent_p.G176G|RIMS1_ENST00000521978.1_Silent_p.G176G			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	176	RabBD.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CCAAATCTGGGGCATGGTTCT	0.418000													5	23					0	0	1	0	0
TMEM185A	84548	broad.mit.edu	37	X	148690439	148690439	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chrX:148690439G>T	ENST00000316916.8	-	3	602	c.298C>A	c.(298-300)Ctg>Atg	p.L100M	TMEM185A_ENST00000507237.1_Missense_Mutation_p.L100M|TMEM185A_ENST00000536359.1_Missense_Mutation_p.L41M	NM_032508.2	NP_115897.1	Q8NFB2	T185A_HUMAN	transmembrane protein 185A	100						integral to membrane				kidney(1)|large_intestine(3)|lung(10)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TCACAGACCAGAACTTCAAAC	0.488000													24	132					3.7963e-18	4.82447e-18	1	1	0
HCN1	348980	broad.mit.edu	37	5	45645301	45645301	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr5:45645301G>A	ENST00000303230.4	-	2	892	c.835C>T	c.(835-837)Cat>Tat	p.H279Y		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	279						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TCCCATTGATGTATGTATCTA	0.333000													19	27					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91642841	91642841	+	Silent	SNP	C	C	T			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chrX:91642841C>T	ENST00000373094.1	+	5	4097	c.3252C>T	c.(3250-3252)ggC>ggT	p.G1084G	PCDH11X_ENST00000373088.1_Silent_p.G1047G|PCDH11X_ENST00000406881.1_Silent_p.G1084G|PCDH11X_ENST00000298274.8_Silent_p.G1047G|PCDH11X_ENST00000504220.1_Intron|PCDH11X_ENST00000373097.1_Silent_p.G1074G|PCDH11X_ENST00000361655.2_Silent_p.G1074G	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1084					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CATCTCATGGCCTGCCCCTTG	0.542000													42	50					0	0	1	0	0
CLTCL1	8218	broad.mit.edu	37	22	19175592	19175592	+	Silent	SNP	C	C	A	rs35864408		TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr22:19175592C>A	ENST00000263200.10	-	28	4407	c.4335G>T	c.(4333-4335)ctG>ctT	p.L1445L	CLTCL1_ENST00000427926.1_Silent_p.L1445L|CLTCL1_ENST00000353891.5_Silent_p.L1445L|CLTCL1_ENST00000442042.2_Intron	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1445	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TCACCAGGGGCAGCTGACCTG	0.582000			T	?	ALCL								15	111					2.62699e-14	3.20493e-14	1	1	0
DFNA5	1687	broad.mit.edu	37	7	24784276	24784276	+	Silent	SNP	C	C	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr7:24784276C>A	ENST00000342947.3	-	3	734	c.309G>T	c.(307-309)ctG>ctT	p.L103L	DFNA5_ENST00000545231.1_5'UTR|DFNA5_ENST00000409970.1_5'UTR|DFNA5_ENST00000409775.3_Silent_p.L103L|DFNA5_ENST00000419307.1_5'UTR	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	103					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						TGCTGCCCCCCAGGTTCAGCT	0.562000													25	39					1.66031e-10	1.84143e-10	1	1	0
FAM83B	222584	broad.mit.edu	37	6	54805986	54805986	+	Silent	SNP	C	C	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr6:54805986C>A	ENST00000306858.7	+	5	2333	c.2217C>A	c.(2215-2217)tcC>tcA	p.S739S		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	739										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AATCAGTTTCCATTGCTGCTT	0.403000													5	60					3.59834e-05	3.85085e-05	1	1	0
COASY	80347	broad.mit.edu	37	17	40714771	40714771	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr17:40714771G>A	ENST00000393818.2	+	1	587	c.131G>A	c.(130-132)gGc>gAc	p.G44D	COASY_ENST00000590958.1_Missense_Mutation_p.G73D|COASY_ENST00000421097.2_Missense_Mutation_p.G44D|COASY_ENST00000420359.1_Missense_Mutation_p.G44D|COASY_ENST00000449624.1_Intron	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	44					coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CTGCAGCCGGGCATGAGCCTG	0.662000													4	100					0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55561312	55561312	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr2:55561312C>T	ENST00000436346.1	-	15	3486	c.2645G>A	c.(2644-2646)cGt>cAt	p.R882H	AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.R882H|CCDC88A_ENST00000336838.6_Missense_Mutation_p.R882H|CCDC88A_ENST00000263630.8_Missense_Mutation_p.R882H	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	882					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TTCTTTCAGACGGACACAAGA	0.303000													23	46					0	0	1	0	0
NAPSA	9476	broad.mit.edu	37	19	50861856	50861856	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr19:50861856G>A	ENST00000253719.2	-	9	1425	c.1217C>T	c.(1216-1218)gCg>gTg	p.A406V	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	406					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		TCCGAGGTCCGCTCCGCGAGT	0.697000													3	13					0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134751117	134751117	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr10:134751117G>A	ENST00000368586.5	-	6	699	c.599C>T	c.(598-600)aCg>aTg	p.T200M	TTC40_ENST00000368582.2_Missense_Mutation_p.T200M|TTC40_ENST00000368585.3_Missense_Mutation_p.T200M	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	0										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CGGAGCTGCCGTGGAGCAGAA	0.463000													35	71					0	0	1	0	0
ABCA5	23461	broad.mit.edu	37	17	67249984	67249984	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr17:67249984T>C	ENST00000392676.3	-	33	4335	c.4271A>G	c.(4270-4272)gAa>gGa	p.E1424G	ABCA5_ENST00000588877.1_Missense_Mutation_p.E1424G|ABCA5_ENST00000392677.2_Missense_Mutation_p.E1425G			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1424	ABC transporter 2.				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					CTGAAGATGTTCTTTTAAATC	0.318000													38	84					0	0	1	0	0
ZBED4	9889	broad.mit.edu	37	22	50278743	50278743	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr22:50278743G>A	ENST00000216268.4	+	2	1910	c.1433G>A	c.(1432-1434)cGg>cAg	p.R478Q		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	478						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GCCGAGTGTCGGTACTGCGGC	0.582000													4	120					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36879945	36879945	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr3:36879945T>C	ENST00000301807.6	-	19	5550	c.3653A>G	c.(3652-3654)aAa>aGa	p.K1218R	TRANK1_ENST00000428977.2_Missense_Mutation_p.K1218R|TRANK1_ENST00000429976.2_Missense_Mutation_p.K1768R	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1768					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TGTTGGCTCTTTGCACTCCAA	0.483000													24	32					0	0	1	0	0
OR10H5	284433	broad.mit.edu	37	19	15905375	15905375	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr19:15905375G>T	ENST00000308940.8	+	1	615	c.517G>T	c.(517-519)Gag>Tag	p.E173*		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						TGGACACAAGGAGATCCACCA	0.602000													18	78					5.35267e-07	5.83058e-07	1	1	0
VIT	5212	broad.mit.edu	37	2	37035830	37035830	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr2:37035830C>G	ENST00000379242.3	+	15	1907	c.1605C>G	c.(1603-1605)aaC>aaG	p.N535K	VIT_ENST00000389975.3_Missense_Mutation_p.N520K|VIT_ENST00000401530.1_Missense_Mutation_p.N499K|VIT_ENST00000497382.1_Missense_Mutation_p.N189K|VIT_ENST00000404084.1_Missense_Mutation_p.N472K|VIT_ENST00000379241.3_Missense_Mutation_p.N498K	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	520	VWFA 2.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TTGTGACCAACCTCACCAAAG	0.577000													27	62					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114031311	114031311	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr8:114031311T>C	ENST00000297405.5	-	6	1259	c.1015A>G	c.(1015-1017)Agt>Ggt	p.S339G	CSMD3_ENST00000352409.3_Missense_Mutation_p.S339G|CSMD3_ENST00000343508.3_Missense_Mutation_p.S299G|CSMD3_ENST00000455883.2_Missense_Mutation_p.S339G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	339	CUB 2.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TAGGGAGCACTAAATCCACGG	0.358000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			6	110					0	0	1	0	0
MEI1	150365	broad.mit.edu	37	22	42114206	42114206	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr22:42114206G>A	ENST00000401548.3	+	6	701	c.661G>A	c.(661-663)Gag>Aag	p.E221K	MEI1_ENST00000540833.1_5'UTR|MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000300398.4_5'UTR	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	221							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						ACACTTCCGTGAGAAGCTTTT	0.493000													9	27					0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	31010026	31010026	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr2:31010026G>A	ENST00000295055.8	-	2	342	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C	CAPN13_ENST00000465960.2_5'UTR|CAPN13_ENST00000534090.2_Missense_Mutation_p.R56C	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	56	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TTGGAGAGGCGTTTTTCCTGG	0.587000													5	8					0	0	1	0	0
HBG2	3048	broad.mit.edu	37	11	5274542	5274542	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr11:5274542C>A	ENST00000380259.2	-	8	1649	c.409G>T	c.(409-411)Gga>Tga	p.G137*	HBG2_ENST00000336906.4_Nonsense_Mutation_p.G137*|HBG2_ENST00000380252.1_Nonsense_Mutation_p.G127*					hemoglobin, gamma G											endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGCCACTCCAGTCACCATC	0.498000													19	33					2.89027e-11	3.26493e-11	1	1	0
GPR37	2861	broad.mit.edu	37	7	124387196	124387196	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr7:124387196C>T	ENST00000303921.2	-	2	1875	c.1225G>A	c.(1225-1227)Ggg>Agg	p.G409R		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	409						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CCACTAAACCCCAAATCCTCC	0.493000													5	78					0	0	1	0	0
TONSL	4796	broad.mit.edu	37	8	145665836	145665836	+	Silent	SNP	A	A	T			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr8:145665836A>T	ENST00000409379.3	-	10	1217	c.1188T>A	c.(1186-1188)atT>atA	p.I396I		NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	396					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						GGGACAGTGCAATGTTCAGCC	0.687000													20	28					0	0	1	0	0
FASTK	10922	broad.mit.edu	37	7	150775729	150775729	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr7:150775729G>A	ENST00000297532.6	-	4	822	c.745C>T	c.(745-747)Cgg>Tgg	p.R249W	FASTK_ENST00000353841.2_Missense_Mutation_p.R108W|FASTK_ENST00000482571.1_Missense_Mutation_p.R222W|FASTK_ENST00000540185.1_Intron|FASTK_ENST00000489884.1_5'UTR	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	249					apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		AACCGGTGCCGGGCCAGGTGC	0.647000													10	24					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137712051	137712051	+	Silent	SNP	C	C	T			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr9:137712051C>T	ENST00000371817.3	+	58	4950	c.4536C>T	c.(4534-4536)tcC>tcT	p.S1512S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1512	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGGGCTCCTCCGGTCCTAAGG	0.632000													17	36					0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131741572	131741572	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr9:131741572C>T	ENST00000372577.2	+	13	1256	c.1235C>T	c.(1234-1236)gCc>gTc	p.A412V		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	412					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GAAGTATTGGCCGACCCTTCT	0.388000													4	190					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117642501	117642501	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr6:117642501T>C	ENST00000368508.3	-	35	5896	c.5698A>G	c.(5698-5700)Ata>Gta	p.I1900V	ROS1_ENST00000368507.3_Missense_Mutation_p.I1894V|GOPC_ENST00000467125.1_5'UTR	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1900					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCTTCGTTTATAAGCACTGTC	0.408000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								31	153					0	0	1	0	0
HBG2	3048	broad.mit.edu	37	11	5274540	5274540	+	Silent	SNP	T	T	C			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr11:5274540T>C	ENST00000380259.2	-	8	1651	c.411A>G	c.(409-411)ggA>ggG	p.G137G	HBG2_ENST00000336906.4_Silent_p.G137G|HBG2_ENST00000380252.1_Silent_p.G127G					hemoglobin, gamma G											endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACTGGCCACTCCAGTCACCA	0.498000													19	34					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84607105	84607105	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr9:84607105C>T	ENST00000344803.2	+	4	1767	c.1720C>T	c.(1720-1722)Cat>Tat	p.H574Y		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		TCAGTCCCCACATCTCACTCA	0.532000													4	81					0	0	1	0	0
UBE2NL	389898	broad.mit.edu	37	X	142967238	142967238	+	Silent	SNP	C	C	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chrX:142967238C>A	ENST00000370494.1	+	1	66	c.36C>A	c.(34-36)acC>acA	p.T12T		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	12							acid-amino acid ligase activity	p.T12T(1)|p.Q13K(1)		breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					TCAAGGAAACCCAGCGTTTGC	0.468000													34	53					5.8336e-16	7.26224e-16	1	1	0
PLCB2	5330	broad.mit.edu	37	15	40594679	40594679	+	Silent	SNP	G	G	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr15:40594679G>A	ENST00000260402.3	-	4	612	c.363C>T	c.(361-363)aaC>aaT	p.N121N	PLCB2_ENST00000557821.1_Silent_p.N121N|PLCB2_ENST00000543785.2_Silent_p.N121N|PLCB2_ENST00000456256.2_Silent_p.N121N	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	121					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CCTTGCCCACGTTCTCCTTGT	0.612000													28	13					0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7614924	7614924	+	Silent	SNP	C	C	A			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr19:7614924C>A	ENST00000221249.6	+	17	2054	c.1623C>A	c.(1621-1623)ggC>ggA	p.G541G	PNPLA6_ENST00000594864.1_3'UTR|PNPLA6_ENST00000414982.3_Silent_p.G589G|PNPLA6_ENST00000450331.3_Silent_p.G541G|PNPLA6_ENST00000600737.1_Silent_p.G580G|PNPLA6_ENST00000545201.2_Silent_p.G515G	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	580					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TGCTCACTGGCGAACCTCTCA	0.612000													13	76					0.000151284	0.00015911	1	1	0
ZNF488	118738	broad.mit.edu	37	10	48371440	48371440	+	Missense_Mutation	SNP	C	C	T	rs78202445		TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr10:48371440C>T	ENST00000395702.2	+	2	1135	c.908C>T	c.(907-909)gCg>gTg	p.A303V	ZNF488_ENST00000586537.1_Missense_Mutation_p.A196V|ZNF488_ENST00000494156.1_3'UTR			Q96MN9	ZN488_HUMAN	zinc finger protein 488	303					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						AAGGAGCATGCGGGGCCTGAC	0.602000													12	81					0	0	1	0	0
AHCTF1	25909	broad.mit.edu	37	1	247013610	247013610	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr1:247013610T>C	ENST00000366508.1	-	33	5939	c.5803A>G	c.(5803-5805)Agc>Ggc	p.S1935G	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.S1909G|AHCTF1_ENST00000391829.2_Missense_Mutation_p.S1900G			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1900	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ATCATTCTGCTAGGACTTGTT	0.318000													47	21					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								31	79					0	0	1	0	0
PAM	5066	broad.mit.edu	37	5	102295742	102295742	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr5:102295742A>C	ENST00000438793.3	+	12	1539	c.1069A>C	c.(1069-1071)Atg>Ctg	p.M357L	PAM_ENST00000304400.7_Missense_Mutation_p.M357L|PAM_ENST00000348126.2_Missense_Mutation_p.M357L|PAM_ENST00000455264.2_Missense_Mutation_p.M357L|PAM_ENST00000346918.2_Missense_Mutation_p.M357L|PAM_ENST00000274392.9_Missense_Mutation_p.M260L|PAM_ENST00000379787.4_5'UTR	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	357	Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	TGATATGGTTATGATGCATGA	0.313000													36	37					0	0	1	0	0
MAOA	4128	broad.mit.edu	37	X	43590513	43590513	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chrX:43590513G>C	ENST00000338702.3	+	7	794	c.671G>C	c.(670-672)gGt>gCt	p.G224A	MAOA_ENST00000497485.1_3'UTR|MAOA_ENST00000542639.1_Missense_Mutation_p.G91A	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	224					behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)	GGTGGATCTGGTCAAGTGAGC	0.468000													25	42					0	0	1	0	0
LMBRD1	55788	broad.mit.edu	37	6	70500318	70500318	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr6:70500318C>T	ENST00000370577.3	-	2	345	c.116G>A	c.(115-117)cGg>cAg	p.R39Q	LMBRD1_ENST00000370570.1_5'UTR	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	39					interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						ACTTTCCCGCCGACTTTGGTA	0.368000													39	46					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118558791	118558792	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr1:118558791_118558792delTT	ENST00000336338.5	-	29	4148_4149	c.4083_4084delAA	c.(4081-4086)aagtfs	p.KS1361fs		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1361						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)		GATGACTGACTTTTGTGACTTT	0.381													31	50	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179419627	179419627	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr2:179419627delC	ENST00000589042.1	-	331	88783	c.88559delG	c.(88558-88560)gcfs	p.G29520fs	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.G20580fs|TTN_ENST00000342992.6_Frame_Shift_Del_p.G26952fs|TTN_ENST00000460472.2_Frame_Shift_Del_p.G20455fs|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Del_p.G27879fs|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.G20647fs|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27879	Fibronectin type-III 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)			TGAGGCTGAGCCCATGGCATT	0.423													12	51	---	---	---	---					
SYCP2L	221711	broad.mit.edu	37	6	10930655	10930655	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr6:10930655delC	ENST00000283141.6	+	19	1837	c.1541delC	c.(1540-1542)acfs	p.T514fs	RP11-637O19.3_ENST00000480294.1_3'UTR|SYCP2L_ENST00000543878.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	514						nucleus		p.T514N(1)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			GATTCAAGTACCAGTGAACTA	0.358													30	50	---	---	---	---					
AGPAT4	56895	broad.mit.edu	37	6	161560589	161560589	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr6:161560589delG	ENST00000320285.4	-	8	1119	c.907delC	c.(907-909)ggfs	p.R304fs	AGPAT4_ENST00000457520.2_Frame_Shift_Del_p.R142fs|AGPAT4_ENST00000366911.5_3'UTR	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	304					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding	p.R303fs*7(2)|p.R303fs*60(1)		endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		CAGGGCCGCCGGGGGGGCACC	0.627													7	218	---	---	---	---					
STAG3L4	0	broad.mit.edu	37	7	66772495	66772495	+	RNA	DEL	T	T	-			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr7:66772495delT	ENST00000416602.2	+	0	362					NR_040586.1		Q8TBR4	STG34_HUMAN												endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				GCTTGATTCCTTTTTTTTTTT	0.423													3	4	---	---	---	---					
KIAA0020	9933	broad.mit.edu	37	9	2837296	2837296	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr9:2837296delT	ENST00000397885.2	-	3	394	c.188delA	c.(187-189)agfs	p.K63fs		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	63						endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		CTTTACACCCTTTTTCCCAAG	0.388													7	273	---	---	---	---					
TRAF2	7186	broad.mit.edu	37	9	139793219	139793219	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr9:139793219delT	ENST00000359662.3	+	2	72	c.27delT	c.(25-27)ccfs	p.P9fs	TRAF2_ENST00000536468.1_Frame_Shift_Del_p.P9fs|TRAF2_ENST00000247668.2_Frame_Shift_Del_p.P9fs			Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	9					activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		TGACCCCCCCTGGCTCCCTGG	0.597													14	32	---	---	---	---					
SYNM	23336	broad.mit.edu	37	15	99670283	99670284	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr15:99670283_99670284delGA	ENST00000336292.6	+	5	1835_1836	c.1715_1716delGA	c.(1714-1716)cfs	p.R572fs	RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000328642.7_Frame_Shift_Del_p.R572fs|SYNM_ENST00000560674.1_Frame_Shift_Del_p.R287fs|SYNM_ENST00000561323.1_3'UTR	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	573	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						AAGAGCGTGCGAGAGAGAGAGG	0.515													15	1635	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76937602	76937602	+	Frame_Shift_Del	DEL	A	A	-			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chrX:76937602delA	ENST00000373344.5	-	9	3360	c.3146delT	c.(3145-3147)aafs	p.I1049fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.I1011fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1049					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTTATCTCTTATTTTTTTACT	0.323			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						72	118	---	---	---	---