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
OR6C3	254786	broad.mit.edu	37	12	55725831	55725831	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M2-01A-12D-A24P-08	TCGA-97-A4M2-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e077aadc-e156-409b-85a4-46418d859eb2	b1154937-591b-4e1a-8cec-23aa57c191b4	g.chr12:55725831C>T	ENST00000379667.1	+	1	347	c.347C>T	c.(346-348)tCc>tTc	p.S116F		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						ACTGCCATGTCCTATGACCGC	0.438000													13	148					0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	109822299	109822299	+	Silent	SNP	T	T	C			TCGA-97-A4M2-01A-12D-A24P-08	TCGA-97-A4M2-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e077aadc-e156-409b-85a4-46418d859eb2	b1154937-591b-4e1a-8cec-23aa57c191b4	g.chr4:109822299T>C	ENST00000399132.1	-	14	1340	c.810A>G	c.(808-810)ggA>ggG	p.G270G	COL25A1_ENST00000399127.1_Silent_p.G266G|COL25A1_ENST00000399126.1_Silent_p.G270G	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	270	Collagen-like 3.					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)		TTCCATTCTGTCCTACTGCTC	0.358000													5	56					0	0	1	0	0
RSF1	51773	broad.mit.edu	37	11	77389164	77389164	+	Missense_Mutation	SNP	T	T	C			TCGA-97-A4M2-01A-12D-A24P-08	TCGA-97-A4M2-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e077aadc-e156-409b-85a4-46418d859eb2	b1154937-591b-4e1a-8cec-23aa57c191b4	g.chr11:77389164T>C	ENST00000308488.6	-	12	3402	c.3100A>G	c.(3100-3102)Att>Gtt	p.I1034V	RSF1_ENST00000360355.2_Missense_Mutation_p.I1003V|RSF1_ENST00000480887.1_Missense_Mutation_p.I782V			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1034					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TCATCTTCAATAGCTTCATCA	0.338000													9	106					0	0	1	0	0
UBE2B	7320	broad.mit.edu	37	5	133724037	133724037	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M2-01A-12D-A24P-08	TCGA-97-A4M2-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e077aadc-e156-409b-85a4-46418d859eb2	b1154937-591b-4e1a-8cec-23aa57c191b4	g.chr5:133724037G>A	ENST00000265339.2	+	5	680	c.263G>A	c.(262-264)tGt>tAt	p.C88Y	UBE2B_ENST00000511807.1_Intron	NM_003337.2	NP_003328.1	P63146	UBE2B_HUMAN	ubiquitin-conjugating enzyme E2B	88					canonical Wnt receptor signaling pathway|histone H2A ubiquitination|negative regulation of cAMP-mediated signaling|postreplication repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein stabilization|response to drug|response to UV	cytoplasm|plasma membrane|replication fork	ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity			kidney(1)|large_intestine(2)|lung(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGTAGCATATGTTTAGATATC	0.333000								Rad6 pathway					4	54					0	0	1	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25144833	25144833	+	RNA	SNP	A	A	G			TCGA-97-A4M2-01A-12D-A24P-08	TCGA-97-A4M2-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e077aadc-e156-409b-85a4-46418d859eb2	b1154937-591b-4e1a-8cec-23aa57c191b4	g.chr13:25144833A>G	ENST00000453498.1	+	0	374																											GGAGCCGCAAATATGGGAACT	0.443000													6	36					0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54754843	54754843	+	Missense_Mutation	SNP	A	A	G			TCGA-97-A4M2-01A-12D-A24P-08	TCGA-97-A4M2-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e077aadc-e156-409b-85a4-46418d859eb2	b1154937-591b-4e1a-8cec-23aa57c191b4	g.chr19:54754843A>G	ENST00000450632.1	-	13	1869	c.1792T>C	c.(1792-1794)Tcc>Ccc	p.S598P	LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000345866.6_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	423					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTGGGGAGGCCTGGGGG	0.607000													4	54					0	0	1	0	0
LOC220729	220729	broad.mit.edu	37	3	197348634	197348634	+	RNA	SNP	G	G	C			TCGA-97-A4M2-01A-12D-A24P-08	TCGA-97-A4M2-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e077aadc-e156-409b-85a4-46418d859eb2	b1154937-591b-4e1a-8cec-23aa57c191b4	g.chr3:197348634G>C	ENST00000418868.1	-	0	625					NR_003266.2																						CAGCAGCACCGATGGGCCTGC	0.542000													5	75					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61654746	61654746	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M2-01A-12D-A24P-08	TCGA-97-A4M2-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e077aadc-e156-409b-85a4-46418d859eb2	b1154937-591b-4e1a-8cec-23aa57c191b4	g.chr8:61654746C>T	ENST00000423902.2	+	2	1234	c.755C>T	c.(754-756)tCg>tTg	p.S252L	CHD7_ENST00000524602.1_Missense_Mutation_p.S252L|CHD7_ENST00000525508.1_Missense_Mutation_p.S252L	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	252					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.S252L(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TTGCGTCACTCGGTGCAGCAG	0.582000													6	150					0	0	1	0	0
CEP85L	387119	broad.mit.edu	37	6	118791708	118791708	+	Missense_Mutation	SNP	A	A	T			TCGA-97-A4M2-01A-12D-A24P-08	TCGA-97-A4M2-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e077aadc-e156-409b-85a4-46418d859eb2	b1154937-591b-4e1a-8cec-23aa57c191b4	g.chr6:118791708A>T	ENST00000368491.3	-	11	2635	c.2014T>A	c.(2014-2016)Ttg>Atg	p.L672M	CEP85L_ENST00000368488.5_Missense_Mutation_p.L675M	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN	centrosomal protein 85kDa-like	672						centrosome											ACTTCAAGCAATGCTTTTGTT	0.308000													5	55					0	0	1	0	0
DSTYK	25778	broad.mit.edu	37	1	205138924	205138924	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M2-01A-12D-A24P-08	TCGA-97-A4M2-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e077aadc-e156-409b-85a4-46418d859eb2	b1154937-591b-4e1a-8cec-23aa57c191b4	g.chr1:205138924G>A	ENST00000367162.3	-	3	721	c.691C>T	c.(691-693)Cgg>Tgg	p.R231W	DSTYK_ENST00000367160.4_Missense_Mutation_p.R231W|DSTYK_ENST00000367161.3_Missense_Mutation_p.R231W	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	231						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						ACTGTGGGCCGGAGGCCTTGG	0.527000													4	55					0	0	1	0	0
CNGA1	1259	broad.mit.edu	37	4	47954618	47954618	+	Missense_Mutation	SNP	A	A	T			TCGA-97-A4M2-01A-12D-A24P-08	TCGA-97-A4M2-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e077aadc-e156-409b-85a4-46418d859eb2	b1154937-591b-4e1a-8cec-23aa57c191b4	g.chr4:47954618A>T	ENST00000402813.3	-	3	450	c.308T>A	c.(307-309)aTg>aAg	p.M103K	CNGA1_ENST00000420489.2_Missense_Mutation_p.M34K|CNGA1_ENST00000544810.1_Missense_Mutation_p.M34K|CNGA1_ENST00000514170.1_Missense_Mutation_p.M34K|CNGA1_ENST00000358519.4_Missense_Mutation_p.M34K			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	34					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TCCATTTTCCATCCTTCGTAT	0.308000													4	38					0	0	1	0	0
NMUR1	10316	broad.mit.edu	37	2	232389976	232389976	+	Silent	SNP	G	G	A			TCGA-97-A4M2-01A-12D-A24P-08	TCGA-97-A4M2-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e077aadc-e156-409b-85a4-46418d859eb2	b1154937-591b-4e1a-8cec-23aa57c191b4	g.chr2:232389976G>A	ENST00000305141.4	-	3	1192	c.1059C>T	c.(1057-1059)ccC>ccT	p.P353P		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	353					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity	p.P353P(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		TATAGAGCACGGGGTTGGCCG	0.657000													6	81					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89990000	89990000	+	Missense_Mutation	SNP	A	A	T			TCGA-97-A4M2-01A-12D-A24P-08	TCGA-97-A4M2-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e077aadc-e156-409b-85a4-46418d859eb2	b1154937-591b-4e1a-8cec-23aa57c191b4	g.chr5:89990000A>T	ENST00000405460.2	+	33	7523	c.7427A>T	c.(7426-7428)aAt>aTt	p.N2476I		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2476					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCTGTCAACAATTCAGACTTC	0.483000													5	55					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2160490	2160490	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M2-01A-12D-A24P-08	TCGA-97-A4M2-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e077aadc-e156-409b-85a4-46418d859eb2	b1154937-591b-4e1a-8cec-23aa57c191b4	g.chr16:2160490C>A	ENST00000262304.4	-	15	4886	c.4678G>T	c.(4678-4680)Gtg>Ttg	p.V1560L	PKD1_ENST00000423118.1_Missense_Mutation_p.V1560L	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1560	PKD 11.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTCAGGGGCACCACCGTGCGG	0.672000													6	86					3.59834e-05	4.14591e-05	1	1	0
SPOCD1	90853	broad.mit.edu	37	1	32259445	32259445	+	Missense_Mutation	SNP	C	C	A	rs112565608	byFrequency	TCGA-97-A4M2-01A-12D-A24P-08	TCGA-97-A4M2-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e077aadc-e156-409b-85a4-46418d859eb2	b1154937-591b-4e1a-8cec-23aa57c191b4	g.chr1:32259445C>A	ENST00000360482.2	-	12	2566	c.2437G>T	c.(2437-2439)Ggg>Tgg	p.G813W	SPOCD1_ENST00000533231.1_Missense_Mutation_p.G813W|SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000257100.3_Missense_Mutation_p.G306W	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	813					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		ATATTGTCCCCGCAGCTCTTG	0.577000													11	164					0.000978159	0.00108005	1	1	0
NUP155	9631	broad.mit.edu	37	5	37310724	37310724	+	Missense_Mutation	SNP	T	T	A			TCGA-97-A4M2-01A-12D-A24P-08	TCGA-97-A4M2-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e077aadc-e156-409b-85a4-46418d859eb2	b1154937-591b-4e1a-8cec-23aa57c191b4	g.chr5:37310724T>A	ENST00000231498.3	-	23	2761	c.2558A>T	c.(2557-2559)gAt>gTt	p.D853V	NUP155_ENST00000513532.1_Intron|NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000381843.2_Missense_Mutation_p.D794V	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	853					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACTAATGCCATCAACAGCGGC	0.363000													5	76					0	0	1	0	0
DNAJB7	150353	broad.mit.edu	37	22	41257968	41257968	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M2-01A-12D-A24P-08	TCGA-97-A4M2-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e077aadc-e156-409b-85a4-46418d859eb2	b1154937-591b-4e1a-8cec-23aa57c191b4	g.chr22:41257968G>T	ENST00000307221.4	-	1	162	c.31C>A	c.(31-33)Caa>Aaa	p.Q11K	XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000482652.1_3'UTR|XPNPEP3_ENST00000357137.4_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	11	J.				protein folding		heat shock protein binding|unfolded protein binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						GCATATCTTTGCAGTCCTAGA	0.413000													7	93					0.0381472	0.0388808	1	1	0
CEP170	9859	broad.mit.edu	37	1	243329092	243329092	+	Missense_Mutation	SNP	T	T	A			TCGA-97-A4M2-01A-12D-A24P-08	TCGA-97-A4M2-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e077aadc-e156-409b-85a4-46418d859eb2	b1154937-591b-4e1a-8cec-23aa57c191b4	g.chr1:243329092T>A	ENST00000366542.1	-	13	2221	c.2170A>T	c.(2170-2172)Agc>Tgc	p.S724C	RP11-261C10.4_ENST00000422938.1_RNA|RP11-261C10.4_ENST00000437499.1_RNA|CEP170_ENST00000366544.1_Missense_Mutation_p.S626C|CEP170_ENST00000366543.1_Missense_Mutation_p.S626C	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	724						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			GGAGCAGAGCTGCCTAAGTGA	0.403000													14	107					0	0	1	0	0
MAGEB16	139604	broad.mit.edu	37	X	35820367	35820367	+	Silent	SNP	C	C	A			TCGA-97-A4M2-01A-12D-A24P-08	TCGA-97-A4M2-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e077aadc-e156-409b-85a4-46418d859eb2	b1154937-591b-4e1a-8cec-23aa57c191b4	g.chrX:35820367C>A	ENST00000399989.1	+	2	333	c.54C>A	c.(52-54)acC>acA	p.T18T	MAGEB16_ENST00000399992.1_Silent_p.T50T|MAGEB16_ENST00000399987.1_Silent_p.T18T|MAGEB16_ENST00000399985.1_Silent_p.T18T|MAGEB16_ENST00000399988.1_Silent_p.T18T	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	18										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						ACCTTCAGACCTTCAGTGAGA	0.572000													6	26					0.00116845	0.00126383	1	1	0
RFXANK	8625	broad.mit.edu	37	19	19304811	19304811	+	Nonsense_Mutation	SNP	C	C	G			TCGA-97-A4M2-01A-12D-A24P-08	TCGA-97-A4M2-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e077aadc-e156-409b-85a4-46418d859eb2	b1154937-591b-4e1a-8cec-23aa57c191b4	g.chr19:19304811C>G	ENST00000303088.4	+	3	530	c.56C>G	c.(55-57)tCa>tGa	p.S19*	RFXANK_ENST00000407360.3_Nonsense_Mutation_p.S19*|RFXANK_ENST00000456252.3_Nonsense_Mutation_p.S19*|RFXANK_ENST00000353145.1_Nonsense_Mutation_p.S19*|RFXANK_ENST00000392324.4_Nonsense_Mutation_p.S19*	NM_003721.2	NP_003712.1	O14593	RFXK_HUMAN	regulatory factor X-associated ankyrin-containing protein	19						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|lung(8)|ovary(2)|prostate(1)	14			Epithelial(12;0.00228)			ACCCCTGCCTCAGAACTTGGG	0.582000													8	216					0	0	1	0	0
USP21	27005	broad.mit.edu	37	1	161132087	161132087	+	Missense_Mutation	SNP	C	C	G			TCGA-97-A4M2-01A-12D-A24P-08	TCGA-97-A4M2-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e077aadc-e156-409b-85a4-46418d859eb2	b1154937-591b-4e1a-8cec-23aa57c191b4	g.chr1:161132087C>G	ENST00000368002.3	+	5	1065	c.688C>G	c.(688-690)Ctg>Gtg	p.L230V	USP21_ENST00000289865.8_Missense_Mutation_p.L230V|USP21_ENST00000368001.1_Missense_Mutation_p.L230V|USP21_ENST00000487163.1_3'UTR	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	230					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GCTGCAGTGTCTGAGCAGCAC	0.587000													5	83					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50724693	50724693	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M2-01A-12D-A24P-08	TCGA-97-A4M2-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e077aadc-e156-409b-85a4-46418d859eb2	b1154937-591b-4e1a-8cec-23aa57c191b4	g.chr2:50724693C>A	ENST00000404971.1	-	15	4116	c.2777G>T	c.(2776-2778)gGc>gTc	p.G926V	NRXN1_ENST00000406316.2_Missense_Mutation_p.G886V|NRXN1_ENST00000401669.2_Missense_Mutation_p.G886V|NRXN1_ENST00000405472.3_Missense_Mutation_p.G878V|NRXN1_ENST00000402717.3_Missense_Mutation_p.G878V|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Missense_Mutation_p.G886V	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	886	Laminin G-like 5.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ATCTATGTCGCCATTTTTACA	0.438000													3	34					0.004672	0.00485522	1	1	0
CYP21A1P	1590	broad.mit.edu	37	6	31975113	31975113	+	RNA	SNP	G	G	C	rs62402680	by1000genomes	TCGA-97-A4M2-01A-12D-A24P-08	TCGA-97-A4M2-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e077aadc-e156-409b-85a4-46418d859eb2	b1154937-591b-4e1a-8cec-23aa57c191b4	g.chr6:31975113G>C	ENST00000342991.6	+	0	1236					NR_040090.1		Q5ST44	Q5ST44_HUMAN									electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen										GCGCAGCCGAGCATGGAAGAG	0.627000													5	72					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144997306	144997306	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M2-01A-12D-A24P-08	TCGA-97-A4M2-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e077aadc-e156-409b-85a4-46418d859eb2	b1154937-591b-4e1a-8cec-23aa57c191b4	g.chr8:144997306C>A	ENST00000322810.4	-	31	7371	c.7202G>T	c.(7201-7203)cGc>cTc	p.R2401L	PLEC_ENST00000357649.2_Missense_Mutation_p.R2268L|PLEC_ENST00000345136.3_Missense_Mutation_p.R2264L|PLEC_ENST00000527096.1_Missense_Mutation_p.R2287L|PLEC_ENST00000356346.3_Missense_Mutation_p.R2250L|PLEC_ENST00000398774.2_Missense_Mutation_p.R2232L|PLEC_ENST00000354589.3_Missense_Mutation_p.R2264L|PLEC_ENST00000436759.2_Missense_Mutation_p.R2291L|PLEC_ENST00000354958.2_Missense_Mutation_p.R2242L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2401	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTGCAGGAAGCGCTGCGTATT	0.642000													8	38					0.00307968	0.00326446	1	1	0
PCDHB16	57717	broad.mit.edu	37	5	140563073	140563073	+	Silent	SNP	G	G	A			TCGA-97-A4M2-01A-12D-A24P-08	TCGA-97-A4M2-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e077aadc-e156-409b-85a4-46418d859eb2	b1154937-591b-4e1a-8cec-23aa57c191b4	g.chr5:140563073G>A	ENST00000361016.2	+	1	2094	c.939G>A	c.(937-939)acG>acA	p.T313T		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		313	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATGGTTACGTCTTATGAAG	0.473000													7	75					0	0	1	0	0
CNTFR	1271	broad.mit.edu	37	9	34557531	34557531	+	Silent	SNP	G	G	A			TCGA-97-A4M2-01A-12D-A24P-08	TCGA-97-A4M2-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e077aadc-e156-409b-85a4-46418d859eb2	b1154937-591b-4e1a-8cec-23aa57c191b4	g.chr9:34557531G>A	ENST00000378980.3	-	6	890	c.597C>T	c.(595-597)ttC>ttT	p.F199F	CNTFR_ENST00000351266.4_Silent_p.F199F	NM_001207011.1|NM_147164.2	NP_001193940.1|NP_671693.1	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	199	Fibronectin type-III 1.				nervous system development	anchored to membrane|extrinsic to membrane|plasma membrane	ciliary neurotrophic factor receptor activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		TACCAATGGTGAACTCGTCAA	0.532000													6	41					0	0	1	0	0
HAS2	3037	broad.mit.edu	37	8	122627209	122627209	+	Missense_Mutation	SNP	C	C	G			TCGA-97-A4M2-01A-12D-A24P-08	TCGA-97-A4M2-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e077aadc-e156-409b-85a4-46418d859eb2	b1154937-591b-4e1a-8cec-23aa57c191b4	g.chr8:122627209C>G	ENST00000303924.4	-	4	1336	c.799G>C	c.(799-801)Gaa>Caa	p.E267Q		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	267						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			CAGGCCCTTTCTATATTAAAA	0.383000													5	114					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39263731	39263731	+	Silent	SNP	C	C	T	rs41292755	byFrequency	TCGA-97-A4M2-01A-12D-A24P-08	TCGA-97-A4M2-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e077aadc-e156-409b-85a4-46418d859eb2	b1154937-591b-4e1a-8cec-23aa57c191b4	g.chr13:39263731C>T	ENST00000280481.7	+	1	2466	c.2250C>T	c.(2248-2250)gaC>gaT	p.D750D		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	750					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.D750E(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CAGACACAGACGAAAATCACC	0.527000													4	55					0	0	1	0	0
HTR3C	170572	broad.mit.edu	37	3	183774712	183774712	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M2-01A-12D-A24P-08	TCGA-97-A4M2-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e077aadc-e156-409b-85a4-46418d859eb2	b1154937-591b-4e1a-8cec-23aa57c191b4	g.chr3:183774712G>A	ENST00000318351.1	+	5	473	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	147						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TATCAGCAGTGAAGGTCGAAT	0.483000													9	152					0	0	1	0	0
MTMR12	54545	broad.mit.edu	37	5	32229897	32229897	+	Missense_Mutation	SNP	A	A	C			TCGA-97-A4M2-01A-12D-A24P-08	TCGA-97-A4M2-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e077aadc-e156-409b-85a4-46418d859eb2	b1154937-591b-4e1a-8cec-23aa57c191b4	g.chr5:32229897A>C	ENST00000382142.3	-	16	2401	c.2231T>G	c.(2230-2232)cTa>cGa	p.L744R	MTMR12_ENST00000264934.5_Missense_Mutation_p.L634R|MTMR12_ENST00000280285.5_Missense_Mutation_p.L690R	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	744						cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CACATCCCCTAGGTCCACGAA	0.512000													4	63					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148072778	148072778	+	Silent	SNP	G	G	T			TCGA-97-A4M2-01A-12D-A24P-08	TCGA-97-A4M2-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e077aadc-e156-409b-85a4-46418d859eb2	b1154937-591b-4e1a-8cec-23aa57c191b4	g.chrX:148072778G>T	ENST00000370460.2	+	21	4331	c.3852G>T	c.(3850-3852)ctG>ctT	p.L1284L	AFF2_ENST00000342251.3_Silent_p.L1251L|AFF2_ENST00000370457.5_Silent_p.L1249L|AFF2_ENST00000286437.5_Silent_p.L925L	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1284					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TGGGGCCTCTGACCCAGCACA	0.488000													14	62					2.32078e-09	2.92861e-09	1	1	0
PLA2G12B	84647	broad.mit.edu	37	10	74695386	74695386	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M2-01A-12D-A24P-08	TCGA-97-A4M2-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e077aadc-e156-409b-85a4-46418d859eb2	b1154937-591b-4e1a-8cec-23aa57c191b4	g.chr10:74695386C>T	ENST00000373032.3	-	4	669	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K		NM_032562.2	NP_115951.2	Q9BX93	PG12B_HUMAN	phospholipase A2, group XIIB	193					lipid catabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	9	Prostate(51;0.0198)					CATAACTCTTCCTTCTCCTCC	0.507000													5	110					0	0	1	0	0
TPCN1	53373	broad.mit.edu	37	12	113710467	113710467	+	Missense_Mutation	SNP	C	C	G			TCGA-97-A4M2-01A-12D-A24P-08	TCGA-97-A4M2-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e077aadc-e156-409b-85a4-46418d859eb2	b1154937-591b-4e1a-8cec-23aa57c191b4	g.chr12:113710467C>G	ENST00000550785.1	+	9	1138	c.969C>G	c.(967-969)ttC>ttG	p.F323L	TPCN1_ENST00000541517.1_Missense_Mutation_p.F323L|TPCN1_ENST00000392569.4_Missense_Mutation_p.F183L|TPCN1_ENST00000335509.6_Missense_Mutation_p.F251L	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	251						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	p.F251F(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TTCTAGGTTTCTACTTGTTCT	0.468000													11	261					0	0	1	0	0
FLI1	2313	broad.mit.edu	37	11	128680823	128680823	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M2-01A-12D-A24P-08	TCGA-97-A4M2-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e077aadc-e156-409b-85a4-46418d859eb2	b1154937-591b-4e1a-8cec-23aa57c191b4	g.chr11:128680823C>A	ENST00000344954.6	+	9	1588	c.1200C>A	c.(1198-1200)aaC>aaA	p.N400K	FLI1_ENST00000281428.8_Missense_Mutation_p.N367K|FLI1_ENST00000429175.2_Missense_Mutation_p.N433K|FLI1_ENST00000525560.1_Missense_Mutation_p.N240K|FLI1_ENST00000534087.1_Missense_Mutation_p.N400K			Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	433					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		TCTACCCCAACCCCAACGTCC	0.567000			T	EWSR1	Ewing sarcoma								6	92					3.59834e-05	4.14591e-05	1	1	0
BBS12	166379	broad.mit.edu	37	4	123665067	123665067	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M2-01A-12D-A24P-08	TCGA-97-A4M2-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e077aadc-e156-409b-85a4-46418d859eb2	b1154937-591b-4e1a-8cec-23aa57c191b4	g.chr4:123665067C>T	ENST00000542236.1	+	3	2401	c.2020C>T	c.(2020-2022)Cgc>Tgc	p.R674C	BBS12_ENST00000314218.3_Missense_Mutation_p.R674C	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	674					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						TGAGGCGTGGCGCCGAGCATT	0.368000									Bardet-Biedl syndrome				11	81					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48277216	48277216	+	Missense_Mutation	SNP	C	C	G			TCGA-97-A4M2-01A-12D-A24P-08	TCGA-97-A4M2-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e077aadc-e156-409b-85a4-46418d859eb2	b1154937-591b-4e1a-8cec-23aa57c191b4	g.chr17:48277216C>G	ENST00000225964.5	-	2	314	c.196G>C	c.(196-198)Ggc>Cgc	p.G66R		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	66	VWFC.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	AACACCTTGCCGTTGTCGCAG	0.637000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						20	221					0	0	1	0	0
NTPCR	84284	broad.mit.edu	37	1	233105780	233105780	+	Missense_Mutation	SNP	C	C	G			TCGA-97-A4M2-01A-12D-A24P-08	TCGA-97-A4M2-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e077aadc-e156-409b-85a4-46418d859eb2	b1154937-591b-4e1a-8cec-23aa57c191b4	g.chr1:233105780C>G	ENST00000366627.4	+	4	491	c.420C>G	c.(418-420)atC>atG	p.I140M	NTPCR_ENST00000366628.4_Missense_Mutation_p.I140M|NTPCR_ENST00000490098.1_3'UTR			Q9BSD7	NTPCR_HUMAN	nucleoside-triphosphatase, cancer-related	140							ATP binding|nucleoside-triphosphatase activity|nucleotide phosphatase activity|transferase activity			large_intestine(2)|lung(1)|ovary(1)	4						GGACTATAATCCTTGGCACAA	0.458000													8	114					0	0	1	0	0
INPPL1	3636	broad.mit.edu	37	11	71948308	71948308	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M2-01A-12D-A24P-08	TCGA-97-A4M2-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e077aadc-e156-409b-85a4-46418d859eb2	b1154937-591b-4e1a-8cec-23aa57c191b4	g.chr11:71948308C>A	ENST00000541756.1	+	26	3224	c.2294C>A	c.(2293-2295)gCc>gAc	p.A765D	INPPL1_ENST00000538751.1_Missense_Mutation_p.A765D|INPPL1_ENST00000298229.2_Missense_Mutation_p.A1007D			O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1007					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CCTGCCAGGGCCCCTGTCCCA	0.637000													13	121					4.3838e-07	5.40329e-07	1	1	0
CLEC4A	50856	broad.mit.edu	37	12	8289441	8289441	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M2-01A-12D-A24P-08	TCGA-97-A4M2-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e077aadc-e156-409b-85a4-46418d859eb2	b1154937-591b-4e1a-8cec-23aa57c191b4	g.chr12:8289441C>T	ENST00000229332.5	+	5	755	c.508C>T	c.(508-510)Cca>Tca	p.P170S	CLEC4A_ENST00000360500.3_Missense_Mutation_p.P131S|CLEC4A_ENST00000352620.3_Missense_Mutation_p.P137S|CLEC4A_ENST00000345999.3_Missense_Mutation_p.P98S	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A	170	C-type lectin.				cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		GCTCTCAGATCCAGAAGGTCA	0.438000													5	85					0	0	1	0	0
RP11-206L10.10	0	broad.mit.edu	37	1	745643	745643	+	RNA	DEL	C	C	-			TCGA-97-A4M2-01A-12D-A24P-08	TCGA-97-A4M2-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e077aadc-e156-409b-85a4-46418d859eb2	b1154937-591b-4e1a-8cec-23aa57c191b4	g.chr1:745643delC	ENST00000435300.1	-	0	340																											TTCAAAGTGACAGACTGTGGG	0.299													6	10	---	---	---	---					
FAM131B	9715	broad.mit.edu	37	7	143053784	143053785	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-97-A4M2-01A-12D-A24P-08	TCGA-97-A4M2-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e077aadc-e156-409b-85a4-46418d859eb2	b1154937-591b-4e1a-8cec-23aa57c191b4	g.chr7:143053784_143053785delCT	ENST00000409408.1	-	6	2565_2566	c.857_858delAG	c.(856-858)gfs	p.E286fs	FAM131B_ENST00000409346.1_Frame_Shift_Del_p.E286fs|FAM131B_ENST00000409578.1_Frame_Shift_Del_p.E302fs|FAM131B_ENST00000409222.3_Frame_Shift_Del_p.E286fs|FAM131B_ENST00000443739.2_Frame_Shift_Del_p.E314fs			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	286	Poly-Glu.									breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					ATCCCGCATCCTCTTCCTCCTC	0.634													14	217	---	---	---	---					
HTR7P1	93164	broad.mit.edu	37	12	13154614	13154614	+	RNA	DEL	C	C	-			TCGA-97-A4M2-01A-12D-A24P-08	TCGA-97-A4M2-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e077aadc-e156-409b-85a4-46418d859eb2	b1154937-591b-4e1a-8cec-23aa57c191b4	g.chr12:13154614delC	ENST00000543321.1	+	0	31				HTR7P1_ENST00000535469.1_RNA																							CAGCCCGGCGCCCACCTGGGA	0.706													2	4	---	---	---	---					
GSDMA	284110	broad.mit.edu	37	17	38132175	38132176	+	Splice_Site	DEL	AG	AG	-			TCGA-97-A4M2-01A-12D-A24P-08	TCGA-97-A4M2-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e077aadc-e156-409b-85a4-46418d859eb2	b1154937-591b-4e1a-8cec-23aa57c191b4	g.chr17:38132175_38132176delAG	ENST00000301659.4	+	11	1139		c.e11-1			NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A						apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						TTTTTTCTCCAGAGCTAAGTGA	0.480													2	4	---	---	---	---					
KRT25	147183	broad.mit.edu	37	17	38911345	38911345	+	Frame_Shift_Del	DEL	C	C	-			TCGA-97-A4M2-01A-12D-A24P-08	TCGA-97-A4M2-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e077aadc-e156-409b-85a4-46418d859eb2	b1154937-591b-4e1a-8cec-23aa57c191b4	g.chr17:38911345delC	ENST00000312150.4	-	1	239	c.179delG	c.(178-180)gafs	p.G61fs		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	61	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				GGGATTACCTCCCCCTGTGTT	0.542													7	118	---	---	---	---					
COL20A1	57642	broad.mit.edu	37	20	61942826	61942826	+	Frame_Shift_Del	DEL	G	G	-			TCGA-97-A4M2-01A-12D-A24P-08	TCGA-97-A4M2-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e077aadc-e156-409b-85a4-46418d859eb2	b1154937-591b-4e1a-8cec-23aa57c191b4	g.chr20:61942826delG	ENST00000422202.1	+	11	1563	c.1495delG	c.(1495-1497)ggfs	p.G499fs	COL20A1_ENST00000435874.1_Frame_Shift_Del_p.G499fs|COL20A1_ENST00000326996.6_Frame_Shift_Del_p.G492fs|COL20A1_ENST00000358894.6_Frame_Shift_Del_p.G492fs			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	492	Fibronectin type-III 3.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GCCCTCGGCCGGGGCCACCCA	0.721													2	4	---	---	---	---