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
C1orf116	79098	broad.mit.edu	37	1	207195320	207195320	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:207195320C>T	ENST00000359470.5	-	4	2038	c.1789G>A	c.(1789-1791)Gga>Aga	p.G597R	C1orf116_ENST00000461135.2_Missense_Mutation_p.G351R	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	597						cytoplasm|plasma membrane	receptor activity	p.G597R(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					TTCAACAGTCCCAGCTTCTTC	0.562000													4	106					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179486462	179486462	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr2:179486462T>G	ENST00000589042.1	-	245	45313	c.45089A>C	c.(45088-45090)gAa>gCa	p.E15030A	TTN_ENST00000460472.2_Missense_Mutation_p.E5965A|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E12462A|TTN_ENST00000359218.5_Missense_Mutation_p.E6090A|TTN_ENST00000342175.6_Missense_Mutation_p.E6157A|TTN_ENST00000591111.1_Missense_Mutation_p.E13389A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13389	Fibronectin type-III 9.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E12462A(2)|p.E5965A(2)|p.E6157A(1)|p.E6090A(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAAGACAGCTTCTTCTTCTGC	0.353000													9	66					0	0	1	0	0
OR5B12	390191	broad.mit.edu	37	11	58206811	58206811	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr11:58206811C>A	ENST00000302572.2	-	1	835	c.814G>T	c.(814-816)Gca>Tca	p.A272S		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A272S(1)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AACACAGATGCCATTTTGTCT	0.433000													6	107					0.217242	0.227712	1	1	0
SMARCA1	6594	broad.mit.edu	37	X	128599698	128599698	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chrX:128599698G>T	ENST00000371122.4	-	23	2958	c.2829C>A	c.(2827-2829)taC>taA	p.Y943*	SMARCA1_ENST00000371121.3_Nonsense_Mutation_p.Y931*|SMARCA1_ENST00000371123.1_Nonsense_Mutation_p.Y931*	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	943					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	p.Y943*(2)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						ATGGAGCCTTGTATCTTGCAA	0.328000													69	20					2.79145e-41	3.23808e-41	1	1	0
SLC27A6	28965	broad.mit.edu	37	5	128362928	128362928	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr5:128362928T>A	ENST00000262462.4	+	7	2368	c.1358T>A	c.(1357-1359)tTt>tAt	p.F453Y	SLC27A6_ENST00000395266.1_Missense_Mutation_p.F453Y|SLC27A6_ENST00000506176.1_Missense_Mutation_p.F453Y			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	453					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	p.F453Y(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TGTGATGTTTTTAAGAAGGGA	0.393000													96	222					0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26581402	26581402	+	Silent	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr10:26581402C>T	ENST00000376261.3	+	14	1898	c.1395C>T	c.(1393-1395)acC>acT	p.T465T	GAD2_ENST00000259271.3_Silent_p.T465T	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	465					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	p.T465T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	AGGGGACTACCGGGTTTGAAG	0.468000													34	82					0	0	1	0	0
RAG1	5896	broad.mit.edu	37	11	36595189	36595189	+	Missense_Mutation	SNP	G	G	A	rs4151026		TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr11:36595189G>A	ENST00000299440.5	+	2	447	c.335G>A	c.(334-336)cGc>cAc	p.R112H		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	112	Interaction with importin alpha-1.				histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.R112L(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CATCTCTGCCGCATCTGTGGG	0.453000									Familial Hemophagocytic Lymphohistiocytosis				4	149					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133249852	133249852	+	Silent	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr12:133249852C>T	ENST00000320574.5	-	14	1414	c.1371G>A	c.(1369-1371)acG>acA	p.T457T	POLE_ENST00000535270.1_Silent_p.T430T	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	457					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	p.T457T(3)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		ACACAGAATACGTGGCCAGAG	0.527000								DNA polymerases (catalytic subunits)					45	76					0	0	1	0	0
GDF5OS	0	broad.mit.edu	37	20	34022673	34022673	+	Silent	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr20:34022673G>A	ENST00000374375.1	+	2	1159	c.717G>A	c.(715-717)ccG>ccA	p.P239P	GDF5_ENST00000374369.3_Intron|GDF5_ENST00000374372.1_Intron														p.P239P(1)		cervix(1)|endometrium(4)|lung(4)	9						CTCTCTCCCCGTCCAGAGAGC	0.542000													3	43					0	0	1	0	0
AP4B1	10717	broad.mit.edu	37	1	114442814	114442814	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:114442814G>A	ENST00000369569.1	-	5	1106	c.826C>T	c.(826-828)Cgg>Tgg	p.R276W	AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000256658.4_Missense_Mutation_p.R276W|AP4B1_ENST00000369566.3_Missense_Mutation_p.R183W|AP4B1_ENST00000369567.1_Missense_Mutation_p.R108W	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	276					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	p.R276W(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCTTGACCCGCACAAGGACA	0.483000													13	101					0	0	1	0	0
IGHM	0	broad.mit.edu	37	14	106321713	106321713	+	RNA	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr14:106321713G>A	ENST00000390559.2	-	0	520																											CTTGTAGGTCGTGGGCCCAGA	0.637000													6	40					0	0	1	0	0
USP15	9958	broad.mit.edu	37	12	62784708	62784708	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr12:62784708C>A	ENST00000280377.5	+	15	1967	c.1909C>A	c.(1909-1911)Caa>Aaa	p.Q637K	USP15_ENST00000393654.3_Missense_Mutation_p.Q612K|USP15_ENST00000353364.3_Missense_Mutation_p.Q608K	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	637					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.Q608K(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		CTGTAAGGACCAAAATATTAA	0.348000													3	104					1	1	1	1	0
OR10T2	128360	broad.mit.edu	37	1	158368837	158368837	+	Silent	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:158368837C>T	ENST00000334438.1	-	1	419	c.420G>A	c.(418-420)agG>agA	p.R140R		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R140R(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					CCAACCCCAGCCTTTTGTTTA	0.473000													7	202					0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55707952	55707952	+	Missense_Mutation	SNP	G	G	A	rs138080428	byFrequency	TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr19:55707952G>A	ENST00000376350.3	-	10	2217	c.2195C>T	c.(2194-2196)aCg>aTg	p.T732M	PTPRH_ENST00000263434.5_Missense_Mutation_p.T554M|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	732	Fibronectin type-III 8.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.T732M(2)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CCAGATGGTCGTGATGGTGGC	0.632000													44	53					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21033374	21033374	+	Missense_Mutation	SNP	G	G	A	rs146618931	by1000genomes	TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr16:21033374G>A	ENST00000261383.3	-	40	5694	c.5695C>T	c.(5695-5697)Cgc>Tgc	p.R1899C	DNAH3_ENST00000415178.1_Intron	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1899	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R1899C(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CAATGAAGGCGACCAAATTCC	0.458000													20	36					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32759237	32759237	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr13:32759237C>T	ENST00000380250.3	+	26	3767	c.3271C>T	c.(3271-3273)Cgg>Tgg	p.R1091W		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1091					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		p.R1091W(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TAAAGATATCCGGGCACATTT	0.428000													14	200					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	71130409	71130409	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr7:71130409G>A	ENST00000333538.5	+	7	1728	c.1094G>A	c.(1093-1095)gGg>gAg	p.G365E	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	365	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.G365E(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TGGCTCTGTGGGGGCAGCATG	0.512000													15	212					0	0	1	0	0
PROCR	10544	broad.mit.edu	37	20	33762727	33762727	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr20:33762727G>T	ENST00000216968.4	+	2	375	c.293G>T	c.(292-294)cGc>cTc	p.R98L	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	98					antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity	p.R98L(2)		breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	GGCCTCGTGCGCCTGGTGCAC	0.726000													5	9					0.000602214	0.000663198	1	1	0
PDZD2	23037	broad.mit.edu	37	5	32087621	32087621	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr5:32087621G>A	ENST00000438447.1	+	20	4455	c.4067G>A	c.(4066-4068)gGt>gAt	p.G1356D	PDZD2_ENST00000282493.3_Missense_Mutation_p.G1356D			O15018	PDZD2_HUMAN	PDZ domain containing 2	1356					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.G1356D(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGAGCTCCAGGTAACCACAGT	0.597000													4	29					0	0	1	0	0
ACSL6	23305	broad.mit.edu	37	5	131308476	131308476	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr5:131308476G>A	ENST00000379264.2	-	13	1387	c.1279C>T	c.(1279-1281)Cgg>Tgg	p.R427W	ACSL6_ENST00000431707.1_Missense_Mutation_p.R382W|ACSL6_ENST00000544770.1_Missense_Mutation_p.R311W|ACSL6_ENST00000379272.2_Missense_Mutation_p.R417W|ACSL6_ENST00000379244.1_Missense_Mutation_p.R402W|ACSL6_ENST00000379249.3_Missense_Mutation_p.R402W|ACSL6_ENST00000379255.1_Missense_Mutation_p.R327W|ACSL6_ENST00000379240.1_Missense_Mutation_p.R402W|ACSL6_ENST00000296869.4_Missense_Mutation_p.R427W|ACSL6_ENST00000357096.1_Missense_Mutation_p.R327W|ACSL6_ENST00000379246.1_Missense_Mutation_p.R413W|ACSL6_ENST00000543479.1_Missense_Mutation_p.R402W	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	402					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATTCCACTCCGGACCTCGGCT	0.438000													4	183					0	0	1	0	0
B3GAT3	26229	broad.mit.edu	37	11	62389399	62389399	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr11:62389399G>T	ENST00000531383.1	-	1	227	c.21C>A	c.(19-21)aaC>aaA	p.N7K	B3GAT3_ENST00000534026.1_Missense_Mutation_p.N7K|B3GAT3_ENST00000265471.5_Missense_Mutation_p.N7K			O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)	7					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding	p.N7K(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						CGAGAAACACGTTCTTCAGCT	0.726000													9	19					6.40141e-05	7.14004e-05	1	1	0
TXN2	25828	broad.mit.edu	37	22	36876770	36876770	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr22:36876770G>A	ENST00000216185.2	-	2	581	c.115C>T	c.(115-117)Cct>Tct	p.P39S	TXN2_ENST00000403313.1_Missense_Mutation_p.P39S|TXN2_ENST00000416967.1_5'UTR|TXN2_ENST00000487725.1_5'UTR			Q99757	THIOM_HUMAN	thioredoxin 2	39					cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	mitochondrion|nucleolus	electron carrier activity	p.P39S(1)		breast(1)|lung(1)|prostate(1)	3						AGGCCACCAGGACTGCATTGT	0.552000													35	86					0	0	1	0	0
SFI1	9814	broad.mit.edu	37	22	31971261	31971261	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr22:31971261T>C	ENST00000432498.1	+	10	1360	c.967T>C	c.(967-969)Ttc>Ctc	p.F323L	SFI1_ENST00000400288.2_Missense_Mutation_p.F323L|SFI1_ENST00000400289.1_Missense_Mutation_p.F241L|SFI1_ENST00000443011.1_Missense_Mutation_p.F170L|SFI1_ENST00000414585.1_Missense_Mutation_p.F170L|SFI1_ENST00000443326.1_Missense_Mutation_p.F241L|SFI1_ENST00000540643.1_Missense_Mutation_p.F299L	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	323					G2/M transition of mitotic cell cycle	centriole|cytosol		p.F323L(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CCAGATATACTTCTGTGACTG	0.547000													3	94					0	0	1	0	0
ITPRIPL1	150771	broad.mit.edu	37	2	96993657	96993657	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr2:96993657C>T	ENST00000361124.4	+	1	1723	c.1312C>T	c.(1312-1314)Cgg>Tgg	p.R438W	ITPRIPL1_ENST00000439118.2_Missense_Mutation_p.R430W|ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.R422W|ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.R422W	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	430						integral to membrane		p.R438W(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTTAAGTCTCCGGCAGCATCA	0.557000													4	183					0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29295481	29295481	+	Silent	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr2:29295481G>A	ENST00000331664.5	-	1	1646	c.1647C>T	c.(1645-1647)agC>agT	p.S549S		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	549					response to stimulus|visual perception	photoreceptor outer segment		p.S549S(2)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TGATCCTTTCGCTGATTGACT	0.582000													48	101					0	0	1	0	0
DET1	55070	broad.mit.edu	37	15	89074369	89074369	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr15:89074369C>G	ENST00000564406.1	-	3	761	c.601G>C	c.(601-603)Gac>Cac	p.D201H	DET1_ENST00000558413.1_Intron|DET1_ENST00000268148.8_Missense_Mutation_p.D190H|DET1_ENST00000444300.1_Missense_Mutation_p.D201H	NM_017996.3	NP_060466.2	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	190						nucleus		p.D201H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			AGGGAATAGTCTTCTAGAGGG	0.522000													23	46					0	0	1	0	0
GABRR2	2570	broad.mit.edu	37	6	89974189	89974189	+	Missense_Mutation	SNP	G	G	A	rs149245573	by1000genomes	TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr6:89974189G>A	ENST00000402938.3	-	8	1161	c.1028C>T	c.(1027-1029)gCg>gTg	p.A343V	GABRR2_ENST00000602399.1_Missense_Mutation_p.A368V	NM_002043.3	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	368					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.A343V(3)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		GTTGACAGCCGCATACTCCAG	0.597000													3	62					0	0	1	0	0
DPY19L1	23333	broad.mit.edu	37	7	34981489	34981489	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr7:34981489T>A	ENST00000310974.4	-	18	1502	c.1358A>T	c.(1357-1359)tAc>tTc	p.Y453F		NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	453						integral to membrane		p.Y453F(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						CAATGCATGGTAAACCAGCTG	0.363000													6	203					0	0	1	0	0
HIST2H2BE	8349	broad.mit.edu	37	1	149858030	149858030	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:149858030C>T	ENST00000369155.2	-	1	202	c.161G>A	c.(160-162)gGc>gAc	p.G54D		NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	54					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.G54D(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GGACGAGATGCCGGTGTCGGG	0.587000													5	304					0	0	1	0	0
GRIN2A	0	broad.mit.edu	37	16	9858281	9858281	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr16:9858281C>A	ENST00000396573.2	-	14	3429	c.3120G>T	c.(3118-3120)gaG>gaT	p.E1040D	GRIN2A_ENST00000562109.1_Missense_Mutation_p.E1040D|GRIN2A_ENST00000535259.1_Missense_Mutation_p.E883D|GRIN2A_ENST00000396575.2_Missense_Mutation_p.E1040D|GRIN2A_ENST00000404927.2_Missense_Mutation_p.E1040D|GRIN2A_ENST00000330684.3_Missense_Mutation_p.E1040D	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1040					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.E1040D(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGGTCCTATTCTCTGCTGTTG	0.532000													100	232					1.10825e-40	1.26865e-40	1	1	0
TEX11	0	broad.mit.edu	37	X	69844762	69844762	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chrX:69844762T>C	ENST00000395889.2	-	20	1821	c.1666A>G	c.(1666-1668)Att>Gtt	p.I556V	TEX11_ENST00000374320.2_Missense_Mutation_p.I231V|TEX11_ENST00000374333.2_Missense_Mutation_p.I541V|TEX11_ENST00000344304.3_Missense_Mutation_p.I556V	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	556							protein binding	p.I541V(1)		breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TCTGCCACAATTTGTTGTCCA	0.318000													4	39					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31769517	31769517	+	Silent	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr19:31769517C>T	ENST00000240587.4	-	2	1509	c.1182G>A	c.(1180-1182)tcG>tcA	p.S394S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	394					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S211S(1)|p.S394S(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGGTGTCATGCGAGCTCCCAC	0.557000													7	222					0	0	1	0	0
RPE65	6121	broad.mit.edu	37	1	68906582	68906582	+	Missense_Mutation	SNP	A	A	T	rs141527042		TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:68906582A>T	ENST00000262340.5	-	6	650	c.597T>A	c.(595-597)aaT>aaA	p.N199K		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	199					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity	p.N199K(1)		central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						CAATTGAAAAATTTTTTCCAA	0.388000													3	102					0	0	1	0	0
ADAM12	8038	broad.mit.edu	37	10	127737879	127737879	+	Silent	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr10:127737879G>A	ENST00000368679.4	-	16	2178	c.1869C>T	c.(1867-1869)ggC>ggT	p.G623G	ADAM12_ENST00000368676.4_Silent_p.G623G	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	623	Cys-rich.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	p.G623G(4)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GCATGTCATCGCCCAAGTACA	0.532000													139	266					0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21796693	21796693	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr14:21796693C>A	ENST00000206660.6	+	18	3006	c.3006C>A	c.(3004-3006)taC>taA	p.Y1002*	RPGRIP1_ENST00000556336.1_Nonsense_Mutation_p.Y659*|RPGRIP1_ENST00000382933.4_Nonsense_Mutation_p.Y328*|RPGRIP1_ENST00000400017.2_Nonsense_Mutation_p.Y1002*|RPGRIP1_ENST00000307974.4_Nonsense_Mutation_p.Y361*|RPGRIP1_ENST00000557771.1_Nonsense_Mutation_p.Y964*			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	1002	Interaction with RPGR.				response to stimulus|visual perception	cilium		p.Y618*(1)|p.Y1002*(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TTGTGAGCTACTCAAGAAGAA	0.428000													3	110					0.115264	0.122292	1	1	0
PCSK2	5126	broad.mit.edu	37	20	17462414	17462414	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr20:17462414G>A	ENST00000262545.2	+	12	1931	c.1616G>A	c.(1615-1617)cGt>cAt	p.R539H	PCSK2_ENST00000536609.1_Missense_Mutation_p.R504H|PCSK2_ENST00000377899.1_Missense_Mutation_p.R520H|PCSK2_ENST00000459871.1_3'UTR	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	539					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	p.R539H(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTGAGCCGGCGTCCAAGGGAT	0.577000													28	38					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57587385	57587385	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr12:57587385G>A	ENST00000243077.3	+	47	8187	c.7721G>A	c.(7720-7722)aGc>aAc	p.S2574N		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2574	LDL-receptor class A 12.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.S2574N(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CGGCAGTGCAGCAATGGGCGC	0.612000													3	48					0	0	1	0	0
OR6K6	128371	broad.mit.edu	37	1	158725158	158725158	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:158725158C>A	ENST00000368144.2	+	1	649	c.553C>A	c.(553-555)Ctt>Att	p.L185I		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L185I(1)		endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					CCTCCTTGTGCTTCCTGAGAT	0.488000													7	122					0.27861	0.288561	1	1	0
ZFP36L1	677	broad.mit.edu	37	14	69256543	69256543	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr14:69256543T>C	ENST00000439696.2	-	2	1025	c.724A>G	c.(724-726)Acc>Gcc	p.T242A	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Missense_Mutation_p.T242A	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	242					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T242A(1)		breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TCGGGCAGGGTAGGTGAGCCC	0.677000											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	179					0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25783976	25783976	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr4:25783976T>C	ENST00000399878.3	-	15	2467	c.2345A>G	c.(2344-2346)aAa>aGa	p.K782R	SEL1L3_ENST00000264868.5_Missense_Mutation_p.K747R|SEL1L3_ENST00000502949.1_Missense_Mutation_p.K629R	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	782						integral to membrane	binding	p.K782R(1)|p.K629R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CTTTGCTGCTTTGGCGTAATT	0.418000													58	110					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21229067	21229067	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr2:21229067C>T	ENST00000233242.1	-	26	10800	c.10673G>A	c.(10672-10674)cGc>cAc	p.R3558H		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3558			R -> C (in FDB; dbSNP:rs12713559).		cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.R3558H(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GGAATATATGCGTTGGAGTGT	0.463000													49	90					0	0	1	0	0
USP5	0	broad.mit.edu	37	12	6964975	6964975	+	Silent	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr12:6964975G>A	ENST00000229268.8	+	3	346	c.294G>A	c.(292-294)cgG>cgA	p.R98R	USP5_ENST00000389231.5_Silent_p.R98R	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	98					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						AGCCCACGCGGCTGGCTATTG	0.582000													4	159					0	0	1	0	0
CCDC178	374864	broad.mit.edu	37	18	30517984	30517984	+	Silent	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr18:30517984G>A	ENST00000383096.3	-	23	2777	c.2595C>T	c.(2593-2595)aaC>aaT	p.N865N	CCDC178_ENST00000579916.1_Silent_p.N185N|CCDC178_ENST00000403303.1_Silent_p.N865N|CCDC178_ENST00000406524.2_Silent_p.N889N|CCDC178_ENST00000581852.1_Silent_p.N70N|CCDC178_ENST00000300227.8_Silent_p.N827N|CCDC178_ENST00000402325.1_Silent_p.N815N|RP11-746B8.1_ENST00000580366.1_RNA|CCDC178_ENST00000583930.1_Silent_p.N889N					coiled-coil domain containing 178									p.N865N(1)|p.N827N(1)									CTTAACCATCGTTTTCGCATG	0.368000													37	67					0	0	1	0	0
BTNL3	10917	broad.mit.edu	37	5	180432367	180432367	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr5:180432367C>T	ENST00000342868.6	+	8	1080	c.896C>T	c.(895-897)cCg>cTg	p.P299L		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	299	B30.2/SPRY.				lipid metabolic process	integral to membrane		p.P299L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			ACGGCTCACCCGAAGCTCTGC	0.537000													42	101					0	0	1	0	0
ADRA1A	148	broad.mit.edu	37	8	26721617	26721617	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr8:26721617T>G	ENST00000380573.3	-	2	1893	c.870A>C	c.(868-870)ttA>ttC	p.L290F	ADRA1A_ENST00000380587.1_Missense_Mutation_p.L290F|ADRA1A_ENST00000380586.1_Missense_Mutation_p.L290F|ADRA1A_ENST00000380572.3_Missense_Mutation_p.L290F|ADRA1A_ENST00000380581.2_Missense_Mutation_p.L290F|ADRA1A_ENST00000358857.5_Missense_Mutation_p.L290F|ADRA1A_ENST00000380582.3_Missense_Mutation_p.L290F|ADRA1A_ENST00000519229.1_Missense_Mutation_p.L290F|ADRA1A_ENST00000354550.4_Missense_Mutation_p.L290F|ADRA1A_ENST00000276393.4_Missense_Mutation_p.L290F			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	290					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity	p.L290F(5)		breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	TGGGCATGACTAAGAAAAAAG	0.562000													4	39					0	0	1	0	0
METTL5	29081	broad.mit.edu	37	2	170677648	170677648	+	Silent	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr2:170677648G>A	ENST00000410097.1	-	4	495	c.360C>T	c.(358-360)ttC>ttT	p.F120F	METTL5_ENST00000409965.1_Silent_p.F120F|METTL5_ENST00000308099.3_Silent_p.F120F|METTL5_ENST00000392640.2_Silent_p.F120F|METTL5_ENST00000409340.1_Intron|METTL5_ENST00000260953.5_Silent_p.F120F|METTL5_ENST00000409837.1_Silent_p.F120F			Q9NRN9	METL5_HUMAN	methyltransferase like 5	120							methyltransferase activity|nucleic acid binding	p.F120F(2)		breast(2)|central_nervous_system(1)|large_intestine(5)|lung(1)|prostate(1)	10						TTACTGTATCGAATGACTTGG	0.303000													4	117					0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7645571	7645571	+	Silent	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr16:7645571C>T	ENST00000340209.4	+	5	801	c.504C>T	c.(502-504)ttC>ttT	p.F168F	RBFOX1_ENST00000550418.1_Silent_p.F163F|RBFOX1_ENST00000553186.1_Silent_p.F163F|RBFOX1_ENST00000547338.1_Silent_p.F163F|RBFOX1_ENST00000547372.1_Silent_p.F206F|RBFOX1_ENST00000355637.4_Silent_p.F183F|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000311745.5_Silent_p.F183F|RBFOX1_ENST00000422070.4_Silent_p.F206F|RBFOX1_ENST00000436368.2_Silent_p.F183F|RBFOX1_ENST00000552089.1_Silent_p.F180F			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	163	RRM.				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	p.F183F(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TCGTAACTTTCGAAAATAGTG	0.453000													89	126					0	0	1	0	0
SLC45A4	57210	broad.mit.edu	37	8	142226017	142226017	+	Silent	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr8:142226017G>A	ENST00000519067.1	-	6	1932	c.1629C>T	c.(1627-1629)taC>taT	p.Y543Y	SLC45A4_ENST00000517878.1_Silent_p.Y594Y|SLC45A4_ENST00000433583.2_Silent_p.Y536Y|SLC45A4_ENST00000024061.3_Silent_p.Y543Y			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	594					transport	integral to membrane		p.Y543Y(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TCCCCAGCACGTAGATCACCC	0.602000													8	39					0	0	1	0	0
WDR77	79084	broad.mit.edu	37	1	111983947	111983947	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:111983947G>C	ENST00000235090.5	-	10	1140	c.934C>G	c.(934-936)Ctg>Gtg	p.L312V	WDR77_ENST00000497278.1_5'UTR|WDR77_ENST00000411751.2_Missense_Mutation_p.L248V	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	312					ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding	p.L312V(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		GTGGTAAGCAGGGAGTGATTG	0.537000													13	130					0	0	1	0	0
NCOA4	8031	broad.mit.edu	37	10	51584833	51584833	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr10:51584833C>T	ENST00000452682.1	+	9	1232	c.980C>T	c.(979-981)tCc>tTc	p.S327F	NCOA4_ENST00000374082.1_Missense_Mutation_p.S311F|NCOA4_ENST00000374087.4_Missense_Mutation_p.S311F|NCOA4_ENST00000443446.1_Missense_Mutation_p.S311F|NCOA4_ENST00000430396.2_Missense_Mutation_p.S211F|NCOA4_ENST00000344348.6_Missense_Mutation_p.S311F|NCOA4_ENST00000414907.2_Missense_Mutation_p.S145F|NCOA4_ENST00000438493.1_Missense_Mutation_p.S327F	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	311					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	p.S327F(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						CCCCAGGAATCCCATAAGCTG	0.438000			T	RET	papillary thyroid								43	82					0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179452332	179452332	+	Silent	SNP	C	C	T	rs141202947		TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:179452332C>T	ENST00000367618.3	+	18	2454	c.2067C>T	c.(2065-2067)aaC>aaT	p.N689N	AL160286.1_ENST00000600581.1_Intron|AXDND1_ENST00000457238.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	689								p.N689N(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						AAATTAACAACGGTAACATTG	0.348000													38	144					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62286704	62286704	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr11:62286704A>C	ENST00000378024.4	-	5	15459	c.15185T>G	c.(15184-15186)gTc>gGc	p.V5062G	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5062					nervous system development	nucleus	protein binding	p.V5062G(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGCGATGTTGACATCTACATC	0.463000													7	408					0	0	1	0	0
CDPF1	150383	broad.mit.edu	37	22	46643050	46643050	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr22:46643050C>T	ENST00000314567.3	-	3	605	c.182G>A	c.(181-183)gGc>gAc	p.G61D	CDPF1_ENST00000404744.1_Missense_Mutation_p.G61D|CDPF1_ENST00000404583.1_Missense_Mutation_p.G61D|CDPF1_ENST00000475605.1_Intron	NM_207327.4	NP_997210.3			cysteine-rich, DPF motif domain containing 1									p.G61D(1)									GCAGCACGAGCCGAGGACCAG	0.597000													3	24					0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70533358	70533358	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr8:70533358C>T	ENST00000260128.4	+	14	2183	c.1466C>T	c.(1465-1467)aCg>aTg	p.T489M	SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.T489M|SULF1_ENST00000458141.2_Missense_Mutation_p.T489M|SULF1_ENST00000402687.4_Missense_Mutation_p.T489M	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	489					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	p.T489M(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CGGCAGAGCACGCGGAACCTC	0.522000													22	85					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189874962	189874962	+	Silent	SNP	T	T	C			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr2:189874962T>C	ENST00000304636.3	+	49	4052	c.3882T>C	c.(3880-3882)tgT>tgC	p.C1294C	COL3A1_ENST00000317840.5_Silent_p.C991C	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1294	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.C1294C(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	AGGTATTCTGTAATATGGAAA	0.403000													45	132					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228890232	228890232	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr2:228890232C>T	ENST00000392056.3	-	5	365	c.319G>A	c.(319-321)Gtt>Att	p.V107I	SPHKAP_ENST00000344657.5_Missense_Mutation_p.V107I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	107						cytoplasm	protein binding	p.V107I(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCTGGTGAAACGTTGACCAGT	0.348000													28	151					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105406624	105406624	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr14:105406624C>G	ENST00000333244.5	-	7	15283	c.15164G>C	c.(15163-15165)gGg>gCg	p.G5055A	AHNAK2_ENST00000557457.1_Missense_Mutation_p.G53A	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5055						nucleus		p.G25A(1)|p.G5055A(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AAAGCTACCCCCTGCTGTGGC	0.547000													6	180					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18052094	18052094	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr17:18052094C>T	ENST00000205890.5	+	33	7122	c.6784C>T	c.(6784-6786)Cgc>Tgc	p.R2262C		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2262	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	p.R2262C(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGATGGCTGGCGCGGCTGGAC	0.602000													4	3					0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117700566	117700566	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chrX:117700566G>T	ENST00000276204.6	+	9	975	c.901G>T	c.(901-903)Gag>Tag	p.E301*	DOCK11_ENST00000276202.7_Nonsense_Mutation_p.E301*			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	301					blood coagulation	cytosol	GTP binding	p.E301*(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AGGAAAAGCCGAGAACATCAT	0.398000													3	40					0.115264	0.122292	1	1	0
PRSS22	64063	broad.mit.edu	37	16	2903247	2903247	+	Silent	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr16:2903247G>A	ENST00000161006.3	-	6	866	c.801C>T	c.(799-801)gcC>gcT	p.A267A	PRSS22_ENST00000571228.1_Silent_p.A157A	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	267	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.A267A(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						TGTTGCGCTCGGCACAGCCCT	0.716000													4	30					0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98762741	98762741	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr10:98762741C>T	ENST00000266058.4	-	35	4119	c.3874G>A	c.(3874-3876)Gtg>Atg	p.V1292M	SLIT1_ENST00000371070.4_Missense_Mutation_p.V1292M|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1292	Laminin G-like.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	p.V1292M(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TTGACATCCACGGGCATCCCT	0.627000													10	159					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	968					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597000													2	3					0	0	1	0	0
FBXW11	23291	broad.mit.edu	37	5	171299983	171299983	+	Silent	SNP	C	C	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr5:171299983C>A	ENST00000296933.6	-	9	1501	c.1131G>T	c.(1129-1131)acG>acT	p.T377T	FBXW11_ENST00000393802.2_Silent_p.T356T|FBXW11_ENST00000425623.2_Silent_p.T358T|FBXW11_ENST00000265094.5_Silent_p.T390T	NM_033644.2|NM_033645.2	NP_387448.2|NP_387449.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	390					cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.T390T(1)|p.T377T(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CACAGGTGCTCGTGCTCCAGA	0.418000													3	73					1	1	1	1	0
KLK3	354	broad.mit.edu	37	19	51361384	51361384	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr19:51361384T>G	ENST00000360617.3	+	3	306	c.306T>G	c.(304-306)gaT>gaG	p.D102E	KLK3_ENST00000593997.1_Missense_Mutation_p.D102E|KLK3_ENST00000597483.1_Intron|KLK3_ENST00000595952.1_Intron|KLK3_ENST00000326003.2_Missense_Mutation_p.D102E			P07288	KLK3_HUMAN	kallikrein-related peptidase 3	102	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	p.D102E(2)		breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		CGCTCTACGATATGAGCCTCC	0.577000													27	33					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158615313	158615313	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:158615313C>A	ENST00000368147.4	-	28	4148	c.3968G>T	c.(3967-3969)gGc>gTc	p.G1323V		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GATCTCTATGCCAGTTAAGTC	0.423000													4	181					0.00909568	0.00989155	1	1	0
MAP6	4135	broad.mit.edu	37	11	75316878	75316878	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr11:75316878T>G	ENST00000434603.2	-	3	1355	c.1291A>C	c.(1291-1293)Aac>Cac	p.N431H	MAP6_ENST00000526740.1_Missense_Mutation_p.N102H|MAP6_ENST00000304771.3_Missense_Mutation_p.N431H	NM_207577.1	NP_997460.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	431						Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding	p.N431H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					AGTTTATTGTTCATCTCTTTG	0.488000													5	257					0	0	1	0	0
SFR1	119392	broad.mit.edu	37	10	105882676	105882676	+	Silent	SNP	T	T	C			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr10:105882676T>C	ENST00000336358.5	+	1	672	c.153T>C	c.(151-153)taT>taC	p.Y51Y	SFR1_ENST00000463224.1_Intron|SFR1_ENST00000369729.3_Intron|SFR1_ENST00000369727.3_Intron			Q86XK3	SFR1_HUMAN	SWI5-dependent recombination repair 1	0					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding										AAGTCGACTATAGAGAGGTGT	0.318000													14	49					0	0	1	0	0
PSRC1	84722	broad.mit.edu	37	1	109824423	109824423	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:109824423G>A	ENST00000438534.2	-	4	475	c.337C>T	c.(337-339)Cgg>Tgg	p.R113W	PSRC1_ENST00000369907.3_Missense_Mutation_p.R113W|PSRC1_ENST00000409138.2_Missense_Mutation_p.R113W|PSRC1_ENST00000369909.2_Missense_Mutation_p.R113W|PSRC1_ENST00000369904.3_Missense_Mutation_p.R113W|PSRC1_ENST00000369903.2_Missense_Mutation_p.R113W|PSRC1_ENST00000409267.1_Missense_Mutation_p.R113W	NM_001005290.3	NP_001005290.1	Q6PGN9	PSRC1_HUMAN	proline/serine-rich coiled-coil 1	113	4 X 4 AA repeats of P-X-X-P.				cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding	p.R113W(1)		endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		GTCTCCCGCCGAGGACTGGGC	0.672000													38	41					0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11188164	11188164	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:11188164G>C	ENST00000361445.4	-	43	6006	c.5930C>G	c.(5929-5931)aCa>aGa	p.T1977R	MTOR_ENST00000376838.1_Missense_Mutation_p.T182R	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1977	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	p.T1977R(2)|p.T1977K(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						AGAAGCCACTGTCAGTGGGTA	0.478000													10	112					0	0	1	0	0
NXNL1	115861	broad.mit.edu	37	19	17571713	17571713	+	Translation_Start_Site	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr19:17571713G>A	ENST00000301944.2	-	0	50					NM_138454.1	NP_612463.1	Q96CM4	NXNL1_HUMAN	nucleoredoxin-like 1						cell redox homeostasis	nuclear outer membrane				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	6						ACAGCGCGGCGTGTGGTCCCC	0.562000													9	27					0	0	1	0	0
ZNF276	92822	broad.mit.edu	37	16	89804607	89804607	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr16:89804607C>T	ENST00000289816.5	+	11	1885	c.1573C>T	c.(1573-1575)Ccc>Tcc	p.P525S	ZNF276_ENST00000446326.2_Missense_Mutation_p.P386S|FANCA_ENST00000389301.3_3'UTR|ZNF276_ENST00000443381.2_Missense_Mutation_p.P600S|ZNF276_ENST00000568064.1_3'UTR	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	600					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P525S(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GCCACCGAGCCCCTCTGTGAC	0.647000													3	8					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13410024	13410024	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr19:13410024G>A	ENST00000360228.5	-	19	2422	c.2423C>T	c.(2422-2424)aCg>aTg	p.T808M	CACNA1A_ENST00000573710.2_Missense_Mutation_p.T809M	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	809					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	p.T809M(3)|p.T808M(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CAGGTGCCGCGTGTAGGCAGC	0.642000													3	48					0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137082144	137082144	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr7:137082144A>T	ENST00000453654.2	-	31	2506	c.1967T>A	c.(1966-1968)tTg>tAg	p.L656*	DGKI_ENST00000446122.1_Nonsense_Mutation_p.L969*|DGKI_ENST00000424189.2_Nonsense_Mutation_p.L1000*|DGKI_ENST00000288490.5_Nonsense_Mutation_p.L987*|DGKI_ENST00000494390.1_5'UTR			O75912	DGKI_HUMAN	diacylglycerol kinase, iota						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.L987*(1)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TGCCATATCCAATAACTCGGA	0.333000													7	165					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32053832	32053832	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr6:32053832G>A	ENST00000375244.3	-	7	3044	c.2843C>T	c.(2842-2844)aCg>aTg	p.T948M	TNXB_ENST00000375247.2_Missense_Mutation_p.T948M			P22105	TENX_HUMAN	tenascin XB	1035	Fibronectin type-III 2.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.T1035M(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCCCCTTGCGTCGTCGAGGG	0.662000													4	5					0	0	1	0	0
RABAC1	10567	broad.mit.edu	37	19	42463023	42463023	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr19:42463023C>A	ENST00000222008.6	-	2	231	c.134G>T	c.(133-135)tGg>tTg	p.W45L	RABAC1_ENST00000601891.1_Missense_Mutation_p.W45L|RABAC1_ENST00000601078.1_5'UTR	NM_006423.2	NP_006414.2	Q9UI14	PRAF1_HUMAN	Rab acceptor 1 (prenylated)	45	Required for interaction with prenylated RAB3A and VAMP2 (By similarity).					cell junction|Golgi apparatus|integral to membrane|synaptic vesicle	identical protein binding	p.W45L(1)		central_nervous_system(1)|kidney(1)|prostate(1)	3						GAAGGTGCTCCAGGGCCGGAT	0.692000													2	3					1	1	1	1	0
KRT25	147183	broad.mit.edu	37	17	38906791	38906791	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr17:38906791G>A	ENST00000312150.4	-	6	1076	c.1016C>T	c.(1015-1017)gCg>gTg	p.A339V		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	339	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.A339V(1)		endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CTGGATCTGCGCCAGCTGCGC	0.562000													7	349					0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13190228	13190228	+	Missense_Mutation	SNP	G	G	A	rs147686842	by1000genomes	TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr9:13190228G>A	ENST00000319217.7	-	16	2286	c.2039C>T	c.(2038-2040)gCg>gTg	p.A680V	MPDZ_ENST00000536827.1_Missense_Mutation_p.A680V|MPDZ_ENST00000381015.4_Missense_Mutation_p.A680V|MPDZ_ENST00000546205.1_Missense_Mutation_p.A680V|MPDZ_ENST00000447879.1_Missense_Mutation_p.A680V|MPDZ_ENST00000541718.1_Missense_Mutation_p.A680V|MPDZ_ENST00000381022.2_Missense_Mutation_p.A680V	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	680					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	p.A680V(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ACTCTGACCCGCATCAGTCAT	0.502000													3	55					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237969520	237969520	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:237969520C>A	ENST00000366574.2	+	99	14552	c.14235C>A	c.(14233-14235)gaC>gaA	p.D4745E	RYR2_ENST00000542537.1_Missense_Mutation_p.D4729E|RYR2_ENST00000360064.6_Missense_Mutation_p.D4751E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4745					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.D4745E(1)|p.D4743E(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACCTTCTCGACATTGCTATGG	0.393000													27	77					2.48779e-11	2.81089e-11	1	1	0
NCOR1	9611	broad.mit.edu	37	17	15976858	15976858	+	Silent	SNP	A	A	C			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr17:15976858A>C	ENST00000268712.3	-	28	3953	c.3696T>G	c.(3694-3696)acT>acG	p.T1232T	NCOR1_ENST00000395851.1_Silent_p.T1248T|NCOR1_ENST00000395857.3_Intron	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1232	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	p.T1232T(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TTGGACTCCTAGTCCCTTCTC	0.393000													10	131					0	0	1	0	0
FZD1	8321	broad.mit.edu	37	7	90895231	90895231	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr7:90895231C>T	ENST00000287934.2	+	1	1449	c.1036C>T	c.(1036-1038)Cgg>Tgg	p.R346W		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	346					autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	p.R346W(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			GGTGGACATGCGGCGCTTCAG	0.637000													5	179					0	0	1	0	0
AC009229.5	0	broad.mit.edu	37	2	38456196	38456196	+	RNA	DEL	A	A	-			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr2:38456196delA	ENST00000450854.1	-	0	533																											tacccaacttaaaaaaaaaaa	0.408													3	6	---	---	---	---					
BBS9	27241	broad.mit.edu	37	7	33312723	33312723	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr7:33312723delT	ENST00000242067.6	+	8	1323	c.802delT	c.(802-804)tttfs	p.F269fs	BBS9_ENST00000425508.2_Frame_Shift_Del_p.F224fs|BBS9_ENST00000355070.2_Frame_Shift_Del_p.F269fs|BBS9_ENST00000354265.4_Frame_Shift_Del_p.F269fs|BBS9_ENST00000396127.2_Frame_Shift_Del_p.F269fs|BBS9_ENST00000350941.3_Frame_Shift_Del_p.F269fs	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	269					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TGAGAGAAACTTTTTTTGCCT	0.393									Bardet-Biedl syndrome				8	458	---	---	---	---					
TBC1D3P5	0	broad.mit.edu	37	17	25754047	25754047	+	RNA	DEL	T	T	-			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr17:25754047delT	ENST00000586223.1	+	0	1595					NR_033892.1																						GACGCTGTTCTTttttttttt	0.453													2	4	---	---	---	---					
GUSBP11	0	broad.mit.edu	37	22	23991795	23991795	+	RNA	DEL	G	G	-			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr22:23991795delG	ENST00000455485.1	-	0	3360																											CCTGCACCCTGtttttttttt	0.512													4	7	---	---	---	---					
