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
UFL1	23376	broad.mit.edu	37	6	96990871	96990871	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr6:96990871G>A	ENST00000369278.4	+	12	1447	c.1381G>A	c.(1381-1383)Gaa>Aaa	p.E461K		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	461					negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity	p.E461K(1)									TAGTGATGATGAATCTCAATC	0.373000													43	92					0	0	0.870114	0	0
SUV420H1	51111	broad.mit.edu	37	11	67942531	67942531	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr11:67942531T>C	ENST00000304363.4	-	5	850	c.497A>G	c.(496-498)tAt>tGt	p.Y166C	SUV420H1_ENST00000402185.2_Missense_Mutation_p.Y143C|SUV420H1_ENST00000402789.1_Missense_Mutation_p.Y166C|SUV420H1_ENST00000401547.2_Missense_Mutation_p.Y166C|SUV420H1_ENST00000405515.1_Missense_Mutation_p.Y166C	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	166					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.Y166C(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GTTGAGAAAATAGTGCCGTGC	0.348000													23	48					0	0	0.681144	0	0
EPOR	2057	broad.mit.edu	37	19	11489402	11489402	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr19:11489402C>G	ENST00000592375.2	-	7	984	c.880G>C	c.(880-882)Gaa>Caa	p.E294Q	EPOR_ENST00000222139.6_Missense_Mutation_p.E294Q			P19235	EPOR_HUMAN	erythropoietin receptor	294						extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding	p.E294Q(1)		endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	AAGAGGCCTTCAAACTCGCTC	0.527000													6	144					0	0	0.217242	0	0
CDH8	1006	broad.mit.edu	37	16	61935122	61935122	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr16:61935122C>A	ENST00000577390.1	-	3	1462	c.508G>T	c.(508-510)Gga>Tga	p.G170*	CDH8_ENST00000577730.1_Nonsense_Mutation_p.G170*|CDH8_ENST00000299345.6_Nonsense_Mutation_p.G170*|CDH8_ENST00000584337.1_Nonsense_Mutation_p.G170*	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	170	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G170*(1)|p.G170>?(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TGATAGGGTCCATTAAGAAAC	0.398000													37	70					8.16277e-20	9.26475e-20	0.827153	1	0
BSND	7809	broad.mit.edu	37	1	55464829	55464829	+	Translation_Start_Site	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:55464829G>A	ENST00000371265.4	+	0	224					NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	Bartter syndrome, infantile, with sensorineural deafness (Barttin)							basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						CTCTCCCGGGGGTGTGCAGGC	0.597000													26	78					0	0	0.788014	0	0
MEF2C	4208	broad.mit.edu	37	5	88047694	88047694	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr5:88047694G>A	ENST00000504921.2	-	5	1241	c.569C>T	c.(568-570)cCt>cTt	p.P190L	MEF2C_ENST00000503554.1_5'UTR|MEF2C_ENST00000539796.1_Missense_Mutation_p.P142L|MEF2C_ENST00000514028.1_Missense_Mutation_p.P190L|MEF2C_ENST00000424173.2_Missense_Mutation_p.P188L|MEF2C_ENST00000508569.1_Missense_Mutation_p.P190L|MEF2C_ENST00000340208.5_Missense_Mutation_p.P208L|MEF2C_ENST00000514015.1_Missense_Mutation_p.P190L|MEF2C_ENST00000437473.2_Missense_Mutation_p.P190L|MEF2C_ENST00000506554.1_Missense_Mutation_p.P190L|MEF2C_ENST00000510942.1_Missense_Mutation_p.P190L			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	190					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.P190L(2)|p.P188L(1)		breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TGCACTTGGAGGTCGATGTGT	0.473000										HNSCC(66;0.2)			27	246					0	0	0.729181	0	0
ITGA8	8516	broad.mit.edu	37	10	15760853	15760853	+	Silent	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr10:15760853G>A	ENST00000378076.3	-	2	608	c.255C>T	c.(253-255)ccC>ccT	p.P85P		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	85					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.P85P(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CCACGATATCGGGCTGGCTGG	0.582000													35	114					0	0	0.812448	0	0
TENM3	55714	broad.mit.edu	37	4	183696288	183696288	+	Silent	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr4:183696288C>T	ENST00000511685.1	+	24	5409	c.5286C>T	c.(5284-5286)gtC>gtT	p.V1762V	TENM3_ENST00000406950.2_Silent_p.V1762V					teneurin transmembrane protein 3									p.V1762V(1)									AAGTCAATGTCTTTGGCCGCA	0.532000													15	32					0	0	0.500413	0	0
GPR171	29909	broad.mit.edu	37	3	150916249	150916249	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr3:150916249G>A	ENST00000309180.5	-	3	1155	c.925C>T	c.(925-927)Cag>Tag	p.Q309*	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	309						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.Q309*(1)		endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTTTCTTTCTGAGCCTTGGTC	0.388000													39	75					0	0	0.812448	0	0
RAD52	5893	broad.mit.edu	37	12	1034684	1034684	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr12:1034684C>A	ENST00000358495.3	-	7	613	c.475G>T	c.(475-477)Ggg>Tgg	p.G159W	RAD52_ENST00000536177.1_Missense_Mutation_p.G159W|RAD52_ENST00000430095.2_Missense_Mutation_p.G159W|RAD52_ENST00000539046.1_Missense_Mutation_p.G82W|RAD52_ENST00000545564.1_Missense_Mutation_p.W209L	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	159					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding	p.G159W(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			AGTGCATTCCCAAAACTCCTA	0.388000								Homologous recombination					18	96					5.35267e-07	5.62526e-07	0.557998	1	0
CSMD3	114788	broad.mit.edu	37	8	113657416	113657416	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr8:113657416T>C	ENST00000297405.5	-	20	3476	c.3232A>G	c.(3232-3234)Atc>Gtc	p.I1078V	CSMD3_ENST00000455883.2_Missense_Mutation_p.I974V|CSMD3_ENST00000352409.3_Missense_Mutation_p.I1078V|CSMD3_ENST00000343508.3_Missense_Mutation_p.I1038V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1078	CUB 6.					integral to membrane|plasma membrane		p.I1078V(1)|p.I1038V(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGTGATAAGATTGTTCCACTA	0.398000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			26	48					0	0	0.681144	0	0
TROVE2	6738	broad.mit.edu	37	1	193038543	193038543	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:193038543G>A	ENST00000367446.3	+	2	569	c.359G>A	c.(358-360)cGc>cAc	p.R120H	TROVE2_ENST00000367441.1_Missense_Mutation_p.R120H|TROVE2_ENST00000400968.2_Missense_Mutation_p.R120H|TROVE2_ENST00000367443.1_Missense_Mutation_p.R120H|TROVE2_ENST00000432079.1_Intron|TROVE2_ENST00000460715.2_Intron|TROVE2_ENST00000416058.2_5'UTR|TROVE2_ENST00000367445.3_Missense_Mutation_p.R120H|TROVE2_ENST00000367444.3_Missense_Mutation_p.R120H	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2	120	TROVE.				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|RNA binding	p.R120H(1)		biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						GAAGTTTGTCGCATTCCTACC	0.448000													26	66					0	0	0.681144	0	0
ZNF423	23090	broad.mit.edu	37	16	49671865	49671865	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr16:49671865C>T	ENST00000561648.1	-	4	1251	c.1198G>A	c.(1198-1200)Gac>Aac	p.D400N	ZNF423_ENST00000562520.1_Missense_Mutation_p.D340N|ZNF423_ENST00000535559.1_Missense_Mutation_p.D283N|ZNF423_ENST00000567169.1_Missense_Mutation_p.D283N|ZNF423_ENST00000262383.2_Missense_Mutation_p.D400N|ZNF423_ENST00000562871.1_Missense_Mutation_p.D340N|ZNF423_ENST00000563137.2_Missense_Mutation_p.D340N	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	400					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.D400N(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CCCTGCCCGTCATCCCGCATC	0.627000													37	54					0	0	0.796494	0	0
RB1	5925	broad.mit.edu	37	13	49027248	49027248	+	Splice_Site	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr13:49027248G>A	ENST00000267163.4	+	18	1952		c.e18+1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(12)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAGCAGATATGTAAGCAAAAT	0.338000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			36	71					0	0	0.819951	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724033	38724033	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr14:38724033C>T	ENST00000342213.2	-	1	1541	c.1195G>A	c.(1195-1197)Gtc>Atc	p.V399I		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	399						integral to membrane	sugar binding	p.V399I(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		AATATGAAGACCACGGCAGAG	0.507000													12	49					0	0	0.479597	0	0
CXCR4	7852	broad.mit.edu	37	2	136872564	136872564	+	Missense_Mutation	SNP	A	A	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr2:136872564A>C	ENST00000409817.1	-	1	1249	c.946T>G	c.(946-948)Tct>Gct	p.S316A	CXCR4_ENST00000241393.3_Missense_Mutation_p.S312A|CXCR4_ENST00000466288.1_5'UTR	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	312					activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding	p.S316A(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	TGCTGGGCAGAGGTTTTAAAT	0.512000													396	639					0	0	0.870114	0	0
CERS3	204219	broad.mit.edu	37	15	101041925	101041925	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr15:101041925G>A	ENST00000284382.4	-	4	553	c.130C>T	c.(130-132)Cca>Tca	p.P44S	CERS3_ENST00000560944.1_Intron|CERS3_ENST00000394113.1_Missense_Mutation_p.P44S|CERS3_ENST00000538112.2_Missense_Mutation_p.P44S	NM_178842.3	NP_849164.2	Q8IU89	CERS3_HUMAN	ceramide synthase 3	44						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	p.P44S(1)									AAAGCATATGGAATTGTCACG	0.393000													8	72					0	0	0.307466	0	0
RB1	5925	broad.mit.edu	37	13	48947629	48947629	+	Splice_Site	SNP	G	G	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr13:48947629G>C	ENST00000267163.4	+	12	1353		c.e12+1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(23)|p.0?(15)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTATTTTAACGTAAGCCATAT	0.279000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			24	189					0	0	0.667858	0	0
CDH8	1006	broad.mit.edu	37	16	61935121	61935121	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr16:61935121C>A	ENST00000577390.1	-	3	1463	c.509G>T	c.(508-510)gGa>gTa	p.G170V	CDH8_ENST00000577730.1_Missense_Mutation_p.G170V|CDH8_ENST00000299345.6_Missense_Mutation_p.G170V|CDH8_ENST00000584337.1_Missense_Mutation_p.G170V	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	170	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G170V(1)|p.G170>?(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ATGATAGGGTCCATTAAGAAA	0.403000													37	69					8.16277e-20	9.26475e-20	0.827153	1	0
EVC2	132884	broad.mit.edu	37	4	5564598	5564598	+	Missense_Mutation	SNP	T	T	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr4:5564598T>A	ENST00000310917.2	-	22	4395	c.3664A>T	c.(3664-3666)Atg>Ttg	p.M1222L	EVC2_ENST00000344938.1_Intron|EVC2_ENST00000344408.5_Missense_Mutation_p.M1302L	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1302						integral to membrane		p.M1302L(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						AAGGCCCTCATGGCCTTTTTG	0.488000													51	112					0	0	0.870114	0	0
TREML3P	340206	broad.mit.edu	37	6	41184905	41184905	+	RNA	SNP	C	C	T	rs61735685		TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr6:41184905C>T	ENST00000564680.1	-	0	305																											ACGTAGGAGACGTGGTTGGGG	0.577000													56	71					0	0	0.870114	0	0
KIAA2026	158358	broad.mit.edu	37	9	6007430	6007430	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr9:6007430G>A	ENST00000399933.3	-	1	357	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C	KIAA2026_ENST00000381461.2_Missense_Mutation_p.R120C	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	120								p.R120C(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CCCCCGCTGCGCGGCCCTTCC	0.726000													3	23					0	0	0.115264	0	0
ELAVL4	1996	broad.mit.edu	37	1	50666658	50666658	+	Silent	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:50666658T>C	ENST00000371824.1	+	7	1166	c.909T>C	c.(907-909)ttT>ttC	p.F303F	ELAVL4_ENST00000371827.1_Silent_p.F303F|ELAVL4_ENST00000371819.1_Silent_p.F308F|ELAVL4_ENST00000371823.4_Silent_p.F317F|ELAVL4_ENST00000448907.2_Silent_p.F306F|ELAVL4_ENST00000357083.4_Silent_p.F320F|ELAVL4_ENST00000371821.1_Silent_p.F322F			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	317	RRM 3.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	p.F317F(1)|p.F320F(1)		NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						GGCAGCTCTTTGGCCCCTTTG	0.507000													34	123					0	0	0.760397	0	0
ZMAT1	84460	broad.mit.edu	37	X	101138751	101138751	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chrX:101138751C>T	ENST00000458570.1	-	9	2465	c.1135G>A	c.(1135-1137)Gaa>Aaa	p.E379K	ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000540921.1_Missense_Mutation_p.E550K|ZMAT1_ENST00000372782.3_Missense_Mutation_p.E550K	NM_001282401.1	NP_001269330.1	A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	379						nucleus	zinc ion binding	p.E550K(1)|p.E379K(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TCTGGCCTTTCTTTGCCTTCT	0.393000													68	59					0	0	0.870114	0	0
AFM	173	broad.mit.edu	37	4	74357676	74357676	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr4:74357676G>T	ENST00000226355.3	+	8	1024	c.931G>T	c.(931-933)Ggc>Tgc	p.G311C		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	311	Albumin 2.				vitamin transport		vitamin E binding	p.G311C(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACCAGAGCGCGGCCAGTGCAT	0.358000													23	38					1.85244e-09	1.98351e-09	0.654019	1	0
UNC45B	146862	broad.mit.edu	37	17	33479931	33479931	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr17:33479931C>T	ENST00000268876.5	+	5	498	c.401C>T	c.(400-402)aCa>aTa	p.T134I	UNC45B_ENST00000378449.1_Missense_Mutation_p.T134I|UNC45B_ENST00000433649.1_Missense_Mutation_p.T134I|UNC45B_ENST00000591048.1_Missense_Mutation_p.T134I|UNC45B_ENST00000394570.2_Missense_Mutation_p.T134I	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	134					cell differentiation|muscle organ development	cytosol	binding	p.T134I(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CAGTTCTCCACAGACTCGAGG	0.537000													39	222					0	0	0.853193	0	0
BNC1	646	broad.mit.edu	37	15	83935803	83935803	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr15:83935803G>A	ENST00000345382.2	-	3	305	c.220C>T	c.(220-222)Ccc>Tcc	p.P74S	BNC1_ENST00000569704.1_Missense_Mutation_p.P67S|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	74					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P74S(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TACATGGGGGGGATCCTTAGC	0.423000													18	43					0	0	0.539581	0	0
FUNDC1	139341	broad.mit.edu	37	X	44401284	44401284	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chrX:44401284T>C	ENST00000378045.4	-	2	260	c.92A>G	c.(91-93)cAg>cGg	p.Q31R	FUNDC1_ENST00000483115.1_5'UTR	NM_173794.3	NP_776155.1	Q8IVP5	FUND1_HUMAN	FUN14 domain containing 1	31								p.Q31R(1)		breast(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						ATTCCACCACTGGTGTCTTCT	0.408000													7	8					0	0	0.278610	0	0
ZMAT1	84460	broad.mit.edu	37	X	101141649	101141649	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chrX:101141649A>G	ENST00000458570.1	-	8	1377	c.47T>C	c.(46-48)tTa>tCa	p.L16S	ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000540921.1_Missense_Mutation_p.L187S|ZMAT1_ENST00000372782.3_Missense_Mutation_p.L187S	NM_001282401.1	NP_001269330.1	A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	16						nucleus	zinc ion binding	p.L16S(1)|p.L187S(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						GAACATATCTAAAGATGTAAA	0.328000													20	17					0	0	0.608945	0	0
CHRNA3	1136	broad.mit.edu	37	15	78893669	78893669	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr15:78893669G>T	ENST00000326828.5	-	5	1699	c.1315C>A	c.(1315-1317)Cca>Aca	p.P439T	CHRNA3_ENST00000348639.3_Missense_Mutation_p.P439T	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	439					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.P439T(1)		central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TTGATTTCTGGTGACAAAGCA	0.408000													65	148					2.79145e-41	3.42519e-41	0.870114	1	0
SLCO4C1	353189	broad.mit.edu	37	5	101631645	101631645	+	Silent	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr5:101631645G>A	ENST00000310954.6	-	1	608	c.322C>T	c.(322-324)Ctg>Ttg	p.L108L		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	108					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	p.L108L(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TAGTGAAGCAGAAAGCCTCCA	0.627000													4	83					0	0	0.150653	0	0
KRT13	3860	broad.mit.edu	37	17	39659035	39659035	+	Silent	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr17:39659035G>A	ENST00000246635.3	-	5	973	c.927C>T	c.(925-927)acC>acT	p.T309T	KRT13_ENST00000587544.1_Silent_p.T309T|KRT13_ENST00000336861.3_Silent_p.T309T	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	309	Coil 2.|Rod.				epidermis development	intermediate filament	structural molecule activity	p.T309T(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				TGGCAGTGTTGGTAGACACCT	0.567000													65	258					0	0	0.870114	0	0
SKIDA1	387640	broad.mit.edu	37	10	21804178	21804178	+	Silent	SNP	A	A	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr10:21804178A>T	ENST00000449193.2	-	4	4826	c.2574T>A	c.(2572-2574)atT>atA	p.I858I	SKIDA1_ENST00000444772.3_Silent_p.I779I	NM_207371.3	NP_997254.3			SKI/DACH domain containing 1									p.I858I(2)									CATCTCTCCCAATAATGAGTG	0.453000													18	54					0	0	0.520397	0	0
ANK3	288	broad.mit.edu	37	10	61829047	61829047	+	Silent	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr10:61829047T>C	ENST00000280772.2	-	37	11783	c.11592A>G	c.(11590-11592)aaA>aaG	p.K3864K	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.K3864K(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTATGGGAAGTTTGGATTTTT	0.398000													108	328					0	0	0.870114	0	0
RBM46	166863	broad.mit.edu	37	4	155719125	155719125	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr4:155719125T>C	ENST00000510397.1	+	3	493	c.314T>C	c.(313-315)tTt>tCt	p.F105S	RBM46_ENST00000514866.1_Missense_Mutation_p.F105S|RBM46_ENST00000281722.3_Missense_Mutation_p.F105S	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	105	RRM 1.						nucleotide binding|RNA binding	p.F105S(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				GGTTATGCTTTTGTGATGTAC	0.353000													40	60					0	0	0.853193	0	0
COL18A1	80781	broad.mit.edu	37	21	46910215	46910215	+	Silent	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr21:46910215C>T	ENST00000359759.4	+	19	3252	c.3231C>T	c.(3229-3231)ccC>ccT	p.P1077P	COL18A1_ENST00000400337.2_Silent_p.P662P|COL18A1_ENST00000355480.5_Silent_p.P842P			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1077	Triple-helical region 4 (COL4).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	p.P842P(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		ATGGAGTCCCCGGGTTCCCCG	0.677000													6	11					0	0	0.248553	0	0
CAMKK2	10645	broad.mit.edu	37	12	121706440	121706440	+	Splice_Site	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr12:121706440C>T	ENST00000324774.5	-	5	1454		c.e5+1		CAMKK2_ENST00000412367.2_Splice_Site|CAMKK2_ENST00000404169.3_Splice_Site|CAMKK2_ENST00000392473.2_Splice_Site|CAMKK2_ENST00000402834.4_Splice_Site|CAMKK2_ENST00000538733.1_Splice_Site|CAMKK2_ENST00000446440.2_Splice_Site|CAMKK2_ENST00000337174.3_Splice_Site|CAMKK2_ENST00000535524.1_Intron|CAMKK2_ENST00000347034.2_Splice_Site|CAMKK2_ENST00000392474.2_Splice_Site	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta						calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity	p.?(2)		endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCCAAACTCACGTGGAAAGCC	0.557000													70	219					0	0	0.870114	0	0
MUC16	94025	broad.mit.edu	37	19	9067793	9067793	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr19:9067793C>G	ENST00000397910.4	-	3	19856	c.19653G>C	c.(19651-19653)aaG>aaC	p.K6551N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6553	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.K6551N(2)|p.K2184N(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TATCTGTGGTCTTCACTAGGC	0.483000													24	52					0	0	0.639603	0	0
DNAH3	55567	broad.mit.edu	37	16	20966209	20966209	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr16:20966209A>G	ENST00000261383.3	-	55	10996	c.10997T>C	c.(10996-10998)aTg>aCg	p.M3666T	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3666	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.M3666T(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)		CTTTTGCCACATCACCGCCTT	0.527000													64	172					0	0	0.870114	0	0
TRAV17	28666	broad.mit.edu	37	14	22466322	22466322	+	RNA	SNP	G	G	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr14:22466322G>T	ENST00000390445.2	+	0	399																											TAAGAGTCACGCTTGACACTT	0.448000													28	60					9.39395e-14	1.0252e-13	0.706142	1	0
LMNB2	84823	broad.mit.edu	37	19	2433965	2433965	+	Silent	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr19:2433965G>A	ENST00000325327.3	-	8	1403	c.1341C>T	c.(1339-1341)agC>agT	p.S447S	LMNB2_ENST00000582871.1_Silent_p.S427S			Q03252	LMNB2_HUMAN	lamin B2	427	Tail.			LEVEEPLGSGPSVLGTGTGGSGGFHLAQQASASGSVS -> WRWRSPWQRPKRPGHGHGWQRWLPPGPAGLGLGQRH (in Ref. 5; AAA80979).		nuclear inner membrane	structural molecule activity	p.S427S(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCTTGGGCCGCTGCCCAAGG	0.716000													5	25					0	0	0.184627	0	0
RNF213	57674	broad.mit.edu	37	17	78293139	78293139	+	Silent	SNP	G	G	A	rs147895650		TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr17:78293139G>A	ENST00000319921.4	+	17	3192	c.3051G>A	c.(3049-3051)acG>acA	p.T1017T	RNF213_ENST00000456466.1_Intron|RNF213_ENST00000582970.1_Intron|RNF213_ENST00000508628.2_Intron	NM_020954.3	NP_066005.2	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0								p.T1017T(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CCTGGGAAACGGATTCGGGCT	0.557000													35	126					0	0	0.779181	0	0
CACNA1E	777	broad.mit.edu	37	1	181725138	181725138	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:181725138C>T	ENST00000526775.1	+	28	4144	c.3979C>T	c.(3979-3981)Cgg>Tgg	p.R1327W	CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1297W|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1327W|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1278W|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R953W|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R1346W|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1346W	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1346					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R1346W(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGTGAAGGGCCGGGAATGGAA	0.493000													11	51					0	0	0.411799	0	0
SLC2A3	6515	broad.mit.edu	37	12	8083900	8083900	+	Silent	SNP	G	G	T	rs138143062		TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr12:8083900G>T	ENST00000075120.7	-	4	691	c.451C>A	c.(451-453)Cgg>Agg	p.R151R		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	151					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	p.R151R(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		AAGGCACCCCGCAGGGCAGTA	0.507000													41	93					2.26627e-22	2.65177e-22	0.834066	1	0
LRRTM2	26045	broad.mit.edu	37	5	138209838	138209838	+	Missense_Mutation	SNP	A	A	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr5:138209838A>C	ENST00000274711.6	-	2	790	c.412T>G	c.(412-414)Ttg>Gtg	p.L138V	CTNNA1_ENST00000302763.7_Intron|CTNNA1_ENST00000520400.1_Intron|LRRTM2_ENST00000521094.2_Intron|CTNNA1_ENST00000518825.1_Intron|LRRTM2_ENST00000518785.1_Intron|LRRTM2_ENST00000523537.1_Intron|CTNNA1_ENST00000355078.5_Intron	NM_015564.2	NP_056379.1	O43300	LRRT2_HUMAN	leucine rich repeat transmembrane neuronal 2	138						cell junction|integral to membrane|postsynaptic membrane		p.L138V(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GACAGGTCCAAATTTTGCAGG	0.398000													18	27					0	0	0.539581	0	0
TFEC	22797	broad.mit.edu	37	7	115596823	115596823	+	Missense_Mutation	SNP	A	A	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr7:115596823A>T	ENST00000265440.7	-	4	472	c.292T>A	c.(292-294)Tat>Aat	p.Y98N	TFEC_ENST00000457268.1_Missense_Mutation_p.Y31N|TFEC_ENST00000484212.1_Missense_Mutation_p.Y188N|TFEC_ENST00000320239.7_Missense_Mutation_p.Y69N|TFEC_ENST00000393485.1_Missense_Mutation_p.Y69N	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	98	Necessary for transcriptional transactivation.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	p.Y98N(1)		NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			TCACCGCTATACACATCCAAA	0.323000													33	59					0	0	0.796494	0	0
LRP1	4035	broad.mit.edu	37	12	57600372	57600372	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr12:57600372G>A	ENST00000243077.3	+	76	12173	c.11707G>A	c.(11707-11709)Gat>Aat	p.D3903N		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3903					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.D3903N(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)	TGTCCGCATTGATGCTATGGA	0.597000													35	45					0	0	0.779181	0	0
ZNF629	23361	broad.mit.edu	37	16	30793590	30793590	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr16:30793590C>T	ENST00000262525.4	-	3	2266	c.2059G>A	c.(2059-2061)Gaa>Aaa	p.E687K		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	687					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E687K(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			AAGGGCTTTTCGTTGCCGTGG	0.567000													17	25					0	0	0.520397	0	0
OR4D6	219983	broad.mit.edu	37	11	59224536	59224536	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr11:59224536T>C	ENST00000300127.2	+	1	126	c.103T>C	c.(103-105)Tat>Cat	p.Y35H		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y35H(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						CTTTGCTGTGTATGTAGCAAC	0.458000													47	123					0	0	0.870114	0	0
SCARA3	51435	broad.mit.edu	37	8	27516466	27516466	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr8:27516466G>A	ENST00000301904.3	+	5	799	c.779G>A	c.(778-780)cGg>cAg	p.R260Q	SCARA3_ENST00000337221.4_Missense_Mutation_p.R260Q	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	260					response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity	p.R260Q(1)		breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		AACTACACACGGCTCTTCAGC	0.622000													15	25					0	0	0.500413	0	0
ACTL8	81569	broad.mit.edu	37	1	18152501	18152501	+	Silent	SNP	C	C	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:18152501C>G	ENST00000375406.1	+	3	804	c.588C>G	c.(586-588)cgC>cgG	p.R196R		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	196						cytoplasm|cytoskeleton		p.R196R(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		GCGATAGACGCTGCCTGTTTC	0.597000											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	63					0	0	0.387290	0	0
SMO	6608	broad.mit.edu	37	7	128850949	128850949	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr7:128850949C>A	ENST00000249373.3	+	10	2076	c.1796C>A	c.(1795-1797)cCc>cAc	p.P599H	RP11-286H14.8_ENST00000466717.1_RNA	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled family receptor	599					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.P599H(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CACGACGGGCCCGTGGGTGAG	0.632000			Mis		skin basal cell								38	89					6.29468e-14	6.90287e-14	0.804634	1	0
TNFRSF1B	7133	broad.mit.edu	37	1	12253005	12253005	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:12253005G>C	ENST00000376259.3	+	6	726	c.637G>C	c.(637-639)Gca>Cca	p.A213P	TNFRSF1B_ENST00000492361.1_3'UTR	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	213					apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity	p.A213P(1)		central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	GGCCCCAGGGGCAGTACACTT	0.617000													19	54					0	0	0.624587	0	0
TRPV5	56302	broad.mit.edu	37	7	142622811	142622811	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr7:142622811G>A	ENST00000265310.1	-	8	1283	c.935C>T	c.(934-936)cCa>cTa	p.P312L	TRPV5_ENST00000442623.1_Missense_Mutation_p.P312L	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	312					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.P312L(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CTCCTTCACTGGGGTCTGTTC	0.527000													6	36					0	0	0.217242	0	0
MALAT1	378938	broad.mit.edu	37	11	65266577	65266577	+	RNA	SNP	C	C	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr11:65266577C>A	ENST00000534336.1	+	0	1345					NR_002819.2																						TTGAGGAAACCGCAGATAAGT	0.438000													42	101					2.95478e-19	3.32047e-19	0.840704	1	0
ABCA12	26154	broad.mit.edu	37	2	215854127	215854127	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr2:215854127C>T	ENST00000272895.7	-	26	3974	c.3755G>A	c.(3754-3756)tGg>tAg	p.W1252*	ABCA12_ENST00000389661.4_Nonsense_Mutation_p.W934*	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1252					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.W1252*(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ACAGCACAGCCAGCCAAATGA	0.428000													39	65					0	0	0.827153	0	0
S1PR1	1901	broad.mit.edu	37	1	101704697	101704697	+	Missense_Mutation	SNP	A	A	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:101704697A>T	ENST00000305352.6	+	2	532	c.157A>T	c.(157-159)Att>Ttt	p.I53F	S1PR1_ENST00000475821.1_3'UTR	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	53					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	p.I53F(1)|p.F52>?(1)		NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						GGTGGTGTTCATTCTCATCTG	0.438000											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	55	104					0	0	0.870114	0	0
HECTD1	25831	broad.mit.edu	37	14	31637558	31637558	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr14:31637558C>A	ENST00000399332.1	-	10	2056	c.1568G>T	c.(1567-1569)aGg>aTg	p.R523M	HECTD1_ENST00000553700.1_Missense_Mutation_p.R523M	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	523					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	p.R523M(1)		breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TGGCAATAACCTTTTCAAGTA	0.338000													83	274					3.71514e-35	4.50982e-35	0.870114	1	0
PANK2	80025	broad.mit.edu	37	20	3869842	3869842	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr20:3869842C>A	ENST00000316562.4	+	1	101	c.95C>A	c.(94-96)aCc>aAc	p.T32N	PANK2_ENST00000497424.1_Intron	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	32					cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding	p.T32N(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CTCCGCGGAACCCGGATCCCC	0.662000													3	24					0.115264	0.116289	0.115264	1	0
UNC45B	146862	broad.mit.edu	37	17	33496943	33496943	+	Missense_Mutation	SNP	T	T	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr17:33496943T>G	ENST00000268876.5	+	11	1637	c.1540T>G	c.(1540-1542)Tgt>Ggt	p.C514G	UNC45B_ENST00000378449.1_Intron|UNC45B_ENST00000433649.1_Missense_Mutation_p.C514G|UNC45B_ENST00000591048.1_Intron|UNC45B_ENST00000394570.2_Missense_Mutation_p.C514G	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	514					cell differentiation|muscle organ development	cytosol	binding	p.C514G(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GGCCAAACAGTGTCGCAAGTA	0.582000													32	68					0	0	0.750413	0	0
TTC23	64927	broad.mit.edu	37	15	99715294	99715294	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr15:99715294C>T	ENST00000394132.2	-	10	1643	c.826G>A	c.(826-828)Gcc>Acc	p.A276T	TTC23_ENST00000394130.1_Missense_Mutation_p.A276T|TTC23_ENST00000394136.1_Missense_Mutation_p.A276T|TTC23_ENST00000262074.4_Missense_Mutation_p.A276T|TTC23_ENST00000394129.2_Missense_Mutation_p.A276T|TTC23_ENST00000558663.1_Missense_Mutation_p.A276T|TTC23_ENST00000558613.1_Missense_Mutation_p.A276T|TTC23_ENST00000394135.3_Missense_Mutation_p.A276T			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	276							binding	p.A276T(1)		endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			GCAGCATGGGCGACGATGTGT	0.512000													27	53					0	0	0.729181	0	0
GBA3	57733	broad.mit.edu	37	4	22749341	22749341	+	RNA	SNP	G	G	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr4:22749341G>C	ENST00000511446.2	+	0	713				GBA3_ENST00000503442.1_RNA|GBA3_ENST00000508166.1_RNA	NM_001277225.1	NP_001264154.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	p.V237L(1)		breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCCCAACTCAGTGTCTGACCA	0.428000													36	177					0	0	0.840704	0	0
TTN	7273	broad.mit.edu	37	2	179472164	179472164	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr2:179472164C>T	ENST00000589042.1	-	277	53475	c.53251G>A	c.(53251-53253)Ggt>Agt	p.G17751S	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G15183S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G16110S|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G8878S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G8811S|TTN_ENST00000460472.2_Missense_Mutation_p.G8686S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16110	Ig-like 104.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G15183S(2)|p.G8811S(1)|p.G8878S(1)|p.G8686S(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)			AATTTGGAACCACAGCTATTT	0.378000													81	129					0	0	0.870114	0	0
NAT16	375607	broad.mit.edu	37	7	100817986	100817986	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr7:100817986C>T	ENST00000300303.2	-	2	341	c.103G>A	c.(103-105)Gag>Aag	p.E35K	NAT16_ENST00000455377.1_Missense_Mutation_p.E35K|NAT16_ENST00000443096.1_Missense_Mutation_p.E35K	NM_198571.2	NP_940973.2	Q8N8M0	CG052_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	35							N-acetyltransferase activity	p.E35K(1)									GCCTCCACCTCCTGTGGCCGG	0.637000													23	127					0	0	0.624587	0	0
OR6K2	81448	broad.mit.edu	37	1	158670236	158670236	+	Silent	SNP	C	C	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:158670236C>G	ENST00000359610.2	-	1	250	c.207G>C	c.(205-207)ctG>ctC	p.L69L		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L69L(1)|p.E70*(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					ACCAAATCTCCAGGAAAGAAA	0.438000													12	62					0	0	0.411799	0	0
CNTN5	53942	broad.mit.edu	37	11	99941209	99941209	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr11:99941209C>A	ENST00000524871.1	+	11	1506	c.1216C>A	c.(1216-1218)Cct>Act	p.P406T	CNTN5_ENST00000528682.1_Missense_Mutation_p.P406T|CNTN5_ENST00000527185.1_Missense_Mutation_p.P406T|CNTN5_ENST00000418526.2_Missense_Mutation_p.P332T|CNTN5_ENST00000279463.3_Missense_Mutation_p.P406T	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	406	Ig-like C2-type 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.P406T(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CAGTGGGAGCCCTCTCCGATG	0.463000													16	18					3.45872e-05	3.60151e-05	0.500413	1	0
KCNJ2	3759	broad.mit.edu	37	17	68171213	68171213	+	Silent	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr17:68171213C>T	ENST00000243457.3	+	2	416	c.33C>T	c.(31-33)atC>atT	p.I11I	KCNJ2_ENST00000535240.1_Silent_p.I11I	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	11					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	p.I11I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					GCTACAGCATCGTCTCTTCAG	0.512000													34	68					0	0	0.819951	0	0
SALL2	6297	broad.mit.edu	37	14	21992660	21992660	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr14:21992660T>C	ENST00000327430.3	-	2	1496	c.1202A>G	c.(1201-1203)tAt>tGt	p.Y401C	SALL2_ENST00000450879.2_Missense_Mutation_p.Y264C|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000538754.1_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	401							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Y401C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		ATTGCACTTATAGGGCCTCTC	0.532000													28	103					0	0	0.706142	0	0
PCDH9	5101	broad.mit.edu	37	13	67799771	67799771	+	Silent	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr13:67799771G>A	ENST00000544246.1	-	2	3493	c.2802C>T	c.(2800-2802)gaC>gaT	p.D934D	PCDH9_ENST00000328454.5_Silent_p.D934D|PCDH9_ENST00000456367.1_Silent_p.D934D|PCDH9_ENST00000377861.3_Silent_p.D934D|PCDH9_ENST00000377865.2_Silent_p.D934D	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	934					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D934D(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GCTTGGCCAGGTCAGGACTGT	0.507000													19	176					0	0	0.624587	0	0
PCDH18	54510	broad.mit.edu	37	4	138452261	138452261	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr4:138452261C>A	ENST00000344876.4	-	1	1368	c.982G>T	c.(982-984)Gat>Tat	p.D328Y	PCDH18_ENST00000507846.1_Missense_Mutation_p.D108Y|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.D328Y	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	328	Cadherin 3.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D328Y(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GGACCCAAATCTTGAGCCTGA	0.358000													4	68					0.00024832	0.000255062	0.150653	1	0
ABLIM3	22885	broad.mit.edu	37	5	148632376	148632376	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr5:148632376G>T	ENST00000506113.1	+	22	2396	c.1914G>T	c.(1912-1914)aaG>aaT	p.K638N	ABLIM3_ENST00000309868.7_Missense_Mutation_p.K638N|ABLIM3_ENST00000326685.7_Missense_Mutation_p.K543N|ABLIM3_ENST00000356541.3_Missense_Mutation_p.K527N|ABLIM3_ENST00000508983.1_Missense_Mutation_p.K605N|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000504238.1_Missense_Mutation_p.K527N|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000517451.1_Missense_Mutation_p.K124N|RP11-331K21.1_ENST00000512647.2_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	638	HP.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	p.K638N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACTGCCCAAGGATGTAGACA	0.488000													34	98					1.36615e-20	1.56624e-20	0.769981	1	0
RABEPK	10244	broad.mit.edu	37	9	127996239	127996239	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr9:127996239A>G	ENST00000373538.3	+	8	1409	c.1099A>G	c.(1099-1101)Att>Gtt	p.I367V	RABEPK_ENST00000259460.8_Missense_Mutation_p.I316V|RABEPK_ENST00000394125.4_Missense_Mutation_p.I367V|RABEPK_ENST00000394124.4_3'UTR	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	367					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane		p.I367V(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						TGACGATTGTATTGTGACTGT	0.388000													96	206					0	0	0.870114	0	0
FOXC2	2303	broad.mit.edu	37	16	86601425	86601425	+	Silent	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr16:86601425C>T	ENST00000320354.4	+	1	569	c.484C>T	c.(484-486)Ctg>Ttg	p.L162L		NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	162					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding	p.L162L(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						CGGCAGCTTCCTGCGGCGCCG	0.667000									Late-onset Hereditary Lymphedema				28	46					0	0	0.717897	0	0
FAM21C	253725	broad.mit.edu	37	10	46245583	46245583	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr10:46245583G>A	ENST00000336378.4	+	9	890	c.772G>A	c.(772-774)Ggc>Agc	p.G258S	FAM21C_ENST00000359860.4_Missense_Mutation_p.G202S|FAM21C_ENST00000537517.1_Missense_Mutation_p.G258S|FAM21C_ENST00000374362.2_Missense_Mutation_p.G258S|FAM21C_ENST00000540872.1_Missense_Mutation_p.G258S	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN	family with sequence similarity 21, member C	258								p.G257S(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GGATGATGATGGCTGTGACCT	0.388000													24	117					0	0	0.681144	0	0
ELMO2	63916	broad.mit.edu	37	20	45022241	45022241	+	Splice_Site	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr20:45022241C>T	ENST00000372176.1	-	5	324		c.e5-1		ELMO2_ENST00000290246.6_Splice_Site|ELMO2_ENST00000488853.1_Splice_Site|ELMO2_ENST00000445496.2_Splice_Site|ELMO2_ENST00000396391.1_Splice_Site|ELMO2_ENST00000439931.2_Splice_Site|ELMO2_ENST00000352077.2_Splice_Site			Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2						apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				CAACGACCACCTATGCAAGAG	0.453000													96	195					0	0	0.870114	0	0
OR4N5	390437	broad.mit.edu	37	14	20612221	20612221	+	Silent	SNP	G	G	T	rs138565527		TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr14:20612221G>T	ENST00000333629.1	+	1	327	c.327G>T	c.(325-327)gcG>gcT	p.A109A		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A109A(1)		endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TTCTTGGAGCGGGAGAGATGT	0.488000													84	220					1.21826e-31	1.4632e-31	0.870114	1	0
MR1	3140	broad.mit.edu	37	1	181018369	181018369	+	Silent	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:181018369G>A	ENST00000367580.5	+	2	254	c.249G>A	c.(247-249)agG>agA	p.R83R	MR1_ENST00000434571.2_Silent_p.R83R|MR1_ENST00000438435.2_3'UTR|MR1_ENST00000282990.6_Silent_p.R83R|MR1_ENST00000367579.3_Silent_p.R83R	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	83	Alpha-1.|Ligand-binding.				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity	p.R83R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						ACTGGGAGAGGTACACTCAGC	0.582000													14	47					0	0	0.435327	0	0
DOCK5	80005	broad.mit.edu	37	8	25234819	25234819	+	Splice_Site	SNP	A	A	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr8:25234819A>G	ENST00000276440.7	+	38	3860		c.e38-1			NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5							cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.?(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CTTCCTTTTCAGTGGTCTGAC	0.363000													22	24					0	0	0.608945	0	0
CCDC73	493860	broad.mit.edu	37	11	32635179	32635179	+	Silent	SNP	A	A	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr11:32635179A>G	ENST00000335185.5	-	16	2728	c.2685T>C	c.(2683-2685)acT>acC	p.T895T		NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	895								p.T895T(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					GAGTTTTCTCAGTTTTTTTAT	0.398000													72	227					0	0	0.870114	0	0
OR5M9	390162	broad.mit.edu	37	11	56230095	56230095	+	Silent	SNP	G	G	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr11:56230095G>T	ENST00000279791.1	-	1	782	c.783C>A	c.(781-783)ccC>ccA	p.P261P		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P261P(1)|p.P261Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					ATTCCTCAGTGGGTCTCCTGA	0.493000													33	79					2.46105e-21	2.86492e-21	0.750413	1	0
YAE1D1	57002	broad.mit.edu	37	7	39612007	39612007	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr7:39612007C>G	ENST00000223273.2	+	3	426	c.383C>G	c.(382-384)tCc>tGc	p.S128C	YAE1D1_ENST00000432096.2_Intron|YAE1D1_ENST00000448268.1_3'UTR	NM_020192.3	NP_064577.1	Q9NRH1	CG036_HUMAN	Yae1 domain containing 1	128								p.S128C(1)									ACTCCACCGTCCCATGTTGTA	0.373000													44	119					0	0	0.859065	0	0
SLC34A1	6569	broad.mit.edu	37	5	176813554	176813554	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr5:176813554G>A	ENST00000324417.5	+	5	610	c.519G>A	c.(517-519)atG>atA	p.M173I	SLC34A1_ENST00000512593.1_Missense_Mutation_p.M173I	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	173					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity	p.M173I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCGTCAGCATGGTCTCCTCTG	0.647000													18	111					0	0	0.557998	0	0
VCAN	1462	broad.mit.edu	37	5	82816650	82816650	+	Missense_Mutation	SNP	A	A	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr5:82816650A>T	ENST00000265077.3	+	7	3090	c.2525A>T	c.(2524-2526)gAc>gTc	p.D842V	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.D794V|VCAN_ENST00000342785.4_Missense_Mutation_p.D842V	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	842	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.D842V(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AAGGATAAAGACATCCCAAGT	0.423000													20	95					0	0	0.575678	0	0
HTR2A	3356	broad.mit.edu	37	13	47469988	47469988	+	Silent	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr13:47469988T>C	ENST00000378688.4	-	1	185	c.54A>G	c.(52-54)ctA>ctG	p.L18L	HTR2A_ENST00000542664.1_Silent_p.L18L|HTR2A_ENST00000543956.1_Intron			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	18					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity	p.L18L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TTAATTGCATTAGGGAGTTCG	0.403000													17	92					0	0	0.557998	0	0
H1FX	8971	broad.mit.edu	37	3	129034521	129034521	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr3:129034521C>G	ENST00000333762.4	-	1	599	c.225G>C	c.(223-225)aaG>aaC	p.K75N	H1FX-AS1_ENST00000433902.2_RNA|H1FX-AS1_ENST00000511998.1_RNA	NM_006026.3	NP_006017.1	Q92522	H1X_HUMAN	H1 histone family, member X	75	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding	p.K75N(1)		kidney(1)|ovary(1)|urinary_tract(2)	4						ACGGAACCTTCTTGGCCTCGG	0.617000													9	5					0	0	0.307466	0	0
DDTL	100037417	broad.mit.edu	37	22	24313540	24313540	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr22:24313540T>C	ENST00000215770.5	+	3	364	c.350T>C	c.(349-351)aTa>aCa	p.I117T		NM_001084393.1	NP_001077862.1	A6NHG4	DDTL_HUMAN	D-dopachrome tautomerase-like	117						cytoplasm	lyase activity	p.I117T(1)		kidney(1)|urinary_tract(1)	2						GGAGAGATAATAGAAGGTAAG	0.483000													43	65					0	0	0.834066	0	0
TUBBP1	92755	broad.mit.edu	37	8	30209778	30209778	+	RNA	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr8:30209778T>C	ENST00000518096.1	+	0	390																											GCCAGATCTTTAGACCAGACA	0.522000													48	94					0	0	0.870114	0	0
C9orf50	375759	broad.mit.edu	37	9	132375441	132375441	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr9:132375441T>C	ENST00000372478.4	-	6	1334	c.1133A>G	c.(1132-1134)cAg>cGg	p.Q378R	NTMT1_ENST00000372486.1_Intron	NM_199350.3	NP_955382.3	Q5SZB4	CI050_HUMAN	chromosome 9 open reading frame 50	378								p.Q378R(1)		central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10		Ovarian(14;0.00556)				TCGCGGCCTCTGAGCAGCGGC	0.607000													38	101					0	0	0.840704	0	0
TMEM62	80021	broad.mit.edu	37	15	43427845	43427845	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr15:43427845A>G	ENST00000260403.2	+	3	707	c.428A>G	c.(427-429)cAt>cGt	p.H143R		NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	143						integral to membrane		p.H143R(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		AAAGGAAATCATGGTAAGAGC	0.408000													4	34					0	0	0.184627	0	0
GCK	2645	broad.mit.edu	37	7	44190672	44190672	+	Silent	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr7:44190672G>A	ENST00000403799.3	-	4	835	c.366C>T	c.(364-366)ctC>ctT	p.L122L	GCK_ENST00000395796.3_Silent_p.L121L|GCK_ENST00000345378.2_Silent_p.L123L|GCK_ENST00000437084.1_Intron	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	122					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	p.L122L(1)|p.L123L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						TGTAGTCGAAGAGCTGGAAGA	0.587000													30	44					0	0	0.717897	0	0
TMEM30A	55754	broad.mit.edu	37	6	75977363	75977363	+	Silent	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr6:75977363T>C	ENST00000230461.6	-	2	668	c.339A>G	c.(337-339)tcA>tcG	p.S113S	TMEM30A_ENST00000370050.5_5'UTR|TMEM30A_ENST00000475111.2_Intron	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN	transmembrane protein 30A	113						integral to membrane		p.S113S(1)		NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGACCTCAAATGACTTTTCCA	0.358000													34	172					0	0	0.804634	0	0
RBM17	84991	broad.mit.edu	37	10	6155497	6155497	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr10:6155497C>G	ENST00000446108.1	+	9	1527	c.883C>G	c.(883-885)Ccg>Gcg	p.P295A	RBM17_ENST00000379888.4_Missense_Mutation_p.P295A|RBM17_ENST00000476706.1_3'UTR	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	295					mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding	p.P295A(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						AGATTCAAATCCGCTGACTGA	0.408000													40	144					0	0	0.840704	0	0
THSD7B	80731	broad.mit.edu	37	2	138414424	138414424	+	Silent	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr2:138414424T>C	ENST00000409968.1	+	23	4342	c.4164T>C	c.(4162-4164)gaT>gaC	p.D1388D	THSD7B_ENST00000413152.2_Silent_p.D1360D|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Silent_p.D1391D					thrombospondin, type I, domain containing 7B									p.D1391D(1)|p.D1360D(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCTGCATTGATGGAAGAAGCT	0.453000													24	38					0	0	0.624587	0	0
TDO2	6999	broad.mit.edu	37	4	156838600	156838600	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr4:156838600T>C	ENST00000536354.2	+	10	1014	c.950T>C	c.(949-951)aTa>aCa	p.I317T		NM_005651.3	NP_005642.1	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase	317					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity	p.I317T(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	CTTATGGACATAGATTCACTG	0.418000													42	56					0	0	0.870114	0	0
HK3	3101	broad.mit.edu	37	5	176314051	176314051	+	Silent	SNP	T	T	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr5:176314051T>A	ENST00000292432.5	-	13	1900	c.1809A>T	c.(1807-1809)ccA>ccT	p.P603P		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	603	Catalytic.|Glucose-binding (Potential).				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	p.P603P(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAAAACCCAGTGGGAGGCTCT	0.607000													14	41					0	0	0.457914	0	0
IGHV2-5	28457	broad.mit.edu	37	14	106494311	106494311	+	RNA	SNP	G	G	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr14:106494311G>T	ENST00000390597.2	-	0	200																											TTTCCTGGGGGCTGACGGATC	0.562000													25	104					1.62565e-12	1.76566e-12	0.760397	1	0
RP11-483E23.2	0	broad.mit.edu	37	15	28599941	28599941	+	RNA	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr15:28599941G>A	ENST00000568624.1	-	0	465																											TTGACAGCATGCTGGCTGTAG	0.498000													23	85					0	0	0.681144	0	0
FBXO4	26272	broad.mit.edu	37	5	41927133	41927133	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr5:41927133A>G	ENST00000296812.2	+	2	264	c.208A>G	c.(208-210)Att>Gtt	p.I70V	FBXO4_ENST00000509134.1_Missense_Mutation_p.I70V|FBXO4_ENST00000281623.3_Missense_Mutation_p.I70V	NM_033484.2	NP_277019.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	70	F-box.				positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity	p.I70V(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				ACAGCTATATATTTTGTCCTT	0.333000													69	140					0	0	0.870114	0	0
FAM193A	8603	broad.mit.edu	37	4	2701490	2701490	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr4:2701490G>T	ENST00000324666.5	+	17	3069	c.2718G>T	c.(2716-2718)gaG>gaT	p.E906D	FAM193A_ENST00000545951.1_Missense_Mutation_p.E906D|FAM193A_ENST00000505311.1_Missense_Mutation_p.E906D|FAM193A_ENST00000382839.3_Missense_Mutation_p.E906D|FAM193A_ENST00000502458.1_Missense_Mutation_p.E928D	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	906	Glu-rich.							p.E906D(1)		NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GGCGggaggaggaggaggatg	0.552000													8	39					0.00448238	0.00456278	0.307466	1	0
LAMC3	10319	broad.mit.edu	37	9	133911631	133911631	+	Silent	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr9:133911631C>T	ENST00000361069.4	+	4	1021	c.888C>T	c.(886-888)acC>acT	p.T296T	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	296	Laminin EGF-like 1.				cell adhesion	basement membrane|membrane	structural molecule activity	p.T296T(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		AGCACAACACCACCGGCACAG	0.682000													17	56					0	0	0.796494	0	0
ZNF845	91664	broad.mit.edu	37	19	53854662	53854662	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr19:53854662G>A	ENST00000458035.1	+	4	851	c.734G>A	c.(733-735)tGt>tAt	p.C245Y	ZNF845_ENST00000595091.1_Missense_Mutation_p.C245Y	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C245Y(1)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						CAATATAAATGTGATGTGTGT	0.368000													29	44					0	0	0.693898	0	0
ARGFX	503582	broad.mit.edu	37	3	121305213	121305213	+	Missense_Mutation	SNP	T	T	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr3:121305213T>A	ENST00000334384.3	+	4	724	c.714T>A	c.(712-714)gaT>gaA	p.D238E		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	238						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.D238E(1)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		ATCTTCCTGATGAGAATGAGA	0.463000													63	112					0	0	0.870114	0	0
OR6K2	81448	broad.mit.edu	37	1	158670235	158670235	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:158670235C>A	ENST00000359610.2	-	1	251	c.208G>T	c.(208-210)Gag>Tag	p.E70*		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E70*(2)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TACCAAATCTCCAGGAAAGAA	0.433000													11	62					6.40141e-05	6.63525e-05	0.387290	1	0
HIPK3	10114	broad.mit.edu	37	11	33360345	33360345	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr11:33360345G>A	ENST00000303296.4	+	5	1689	c.1384G>A	c.(1384-1386)Gaa>Aaa	p.E462K	HIPK3_ENST00000534262.1_3'UTR|HIPK3_ENST00000456517.1_Missense_Mutation_p.E462K|HIPK3_ENST00000379016.3_Missense_Mutation_p.E462K|HIPK3_ENST00000525975.1_Missense_Mutation_p.E462K	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	462	Protein kinase.				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	p.E462K(1)		endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						GAAGTCTAAAGAAGCCAGAAA	0.358000													32	99					0	0	0.750413	0	0
ATP8A2	51761	broad.mit.edu	37	13	26273338	26273338	+	Missense_Mutation	SNP	T	T	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr13:26273338T>A	ENST00000381655.2	+	25	2381	c.2239T>A	c.(2239-2241)Tgc>Agc	p.C747S	ATP8A2_ENST00000255283.8_Missense_Mutation_p.C707S|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	707					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.C747S(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TACTCAGCACTGCACTGACCT	0.453000													49	73					0	0	0.870114	0	0
ABCA8	10351	broad.mit.edu	37	17	66871845	66871845	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr17:66871845G>A	ENST00000269080.2	-	34	4417	c.4280C>T	c.(4279-4281)aCg>aTg	p.T1427M	ABCA8_ENST00000586539.1_Missense_Mutation_p.T1467M|ABCA8_ENST00000430352.2_Missense_Mutation_p.T1467M	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1427	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.T1427M(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					ACCCCTTTCCGTGTTTCTAAA	0.483000													39	54					0	0	0.827153	0	0
PACRG	135138	broad.mit.edu	37	6	163235240	163235240	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr6:163235240G>A	ENST00000337019.3	+	3	442	c.218G>A	c.(217-219)cGa>cAa	p.R73Q	PACRG_ENST00000542669.1_3'UTR|PACRG_ENST00000366888.2_Missense_Mutation_p.R73Q|PACRG_ENST00000366889.2_Missense_Mutation_p.R73Q	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	73								p.R73Q(1)		endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		ACAGCATTTCGAAAATTCTAT	0.468000													42	199					0	0	0.853193	0	0
FCN2	2220	broad.mit.edu	37	9	137777143	137777143	+	Silent	SNP	C	C	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr9:137777143C>A	ENST00000350339.2	+	4	260	c.246C>A	c.(244-246)acC>acA	p.T82T	FCN2_ENST00000291744.6_Silent_p.T120T	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	120	Collagen-like.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding	p.T120T(1)		breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		GCTGGCACACCATCTACCTGC	0.677000													14	46					1.05317e-09	1.13843e-09	0.457914	1	0
ANKRD33	341405	broad.mit.edu	37	12	52282069	52282069	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr12:52282069G>A	ENST00000301190.6	+	1	326	c.99G>A	c.(97-99)tgG>tgA	p.W33*	ANKRD33_ENST00000538991.1_5'UTR|ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000340970.4_5'UTR	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	0								p.W33*(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		GCGGAGCCTGGGCTGTGCCCC	0.567000													45	134					0	0	0.859065	0	0
MFSD4	148808	broad.mit.edu	37	1	205538365	205538365	+	Silent	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:205538365C>T	ENST00000367147.4	+	1	261	c.168C>T	c.(166-168)gtC>gtT	p.V56V	MFSD4_ENST00000536357.1_Silent_p.V56V|MFSD4_ENST00000539267.1_Silent_p.V56V	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	56					transmembrane transport	integral to membrane		p.V56V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			TCTCCTGGGTCTTCTTCTCGC	0.701000													6	14					0	0	0.278610	0	0
S1PR1	1901	broad.mit.edu	37	1	101704696	101704696	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:101704696C>A	ENST00000305352.6	+	2	531	c.156C>A	c.(154-156)ttC>ttA	p.F52L	S1PR1_ENST00000475821.1_3'UTR	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	52					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	p.F52L(1)|p.F52>?(1)		NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						CGGTGGTGTTCATTCTCATCT	0.438000											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	55	107					8.28887e-21	9.55113e-21	0.870114	1	0
ZCCHC6	79670	broad.mit.edu	37	9	88953842	88953842	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr9:88953842C>T	ENST00000375961.2	-	9	1445	c.1231G>A	c.(1231-1233)Gca>Aca	p.A411T	ZCCHC6_ENST00000375960.2_Intron|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375963.3_Missense_Mutation_p.A411T|ZCCHC6_ENST00000375948.1_Missense_Mutation_p.A49T			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	411					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	p.A411T(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TCATTTCCTGCGCTCACTTTA	0.433000													15	60					0	0	0.500413	0	0
TTC26	79989	broad.mit.edu	37	7	138822608	138822608	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr7:138822608G>A	ENST00000464848.1	+	3	237	c.157G>A	c.(157-159)Ggg>Agg	p.G53R	TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000430935.1_Missense_Mutation_p.G53R|TTC26_ENST00000474035.2_Missense_Mutation_p.G53R|TTC26_ENST00000478836.2_Missense_Mutation_p.G53R|TTC26_ENST00000495038.1_Missense_Mutation_p.G53R|TTC26_ENST00000343187.4_Intron			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	53							binding	p.G53R(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						ACGTCATGTTGGGGAAGAAGA	0.328000													30	105					0	0	0.769981	0	0
LMNB2	84823	broad.mit.edu	37	19	2433947	2433947	+	Silent	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr19:2433947G>A	ENST00000325327.3	-	8	1421	c.1359C>T	c.(1357-1359)ggC>ggT	p.G453G	LMNB2_ENST00000582871.1_Silent_p.G433G			Q03252	LMNB2_HUMAN	lamin B2	433	Tail.			LEVEEPLGSGPSVLGTGTGGSGGFHLAQQASASGSVS -> WRWRSPWQRPKRPGHGHGWQRWLPPGPAGLGLGQRH (in Ref. 5; AAA80979).		nuclear inner membrane	structural molecule activity	p.G433G(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGTGCCCGTGCCCAGGACGC	0.711000													6	32					0	0	0.217242	0	0
TMEM67	91147	broad.mit.edu	37	8	94827619	94827619	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr8:94827619G>A	ENST00000453321.3	+	27	2909	c.2851G>A	c.(2851-2853)Gat>Aat	p.D951N	TMEM67_ENST00000409623.3_Missense_Mutation_p.D870N	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	951					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding	p.D941N(1)|p.D951N(1)		breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			CTGTGTTGTGGATTTGGCTTG	0.303000													21	71					0	0	0.624587	0	0
DNAH17	8632	broad.mit.edu	37	17	76497363	76497363	+	Silent	SNP	G	G	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr17:76497363G>T	ENST00000389840.5	-	35	5468	c.5344C>A	c.(5344-5346)Cga>Aga	p.R1782R	DNAH17-AS1_ENST00000598378.1_3'UTR|DNAH17_ENST00000585328.1_Silent_p.R1791R					dynein, axonemal, heavy chain 17									p.R1791R(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AAGCAGTGTCGCTTCTCTTCG	0.587000													28	98					9.80776e-20	1.10764e-19	0.706142	1	0
RYR1	6261	broad.mit.edu	37	19	38931454	38931454	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr19:38931454G>A	ENST00000355481.4	+	2	246	c.115G>A	c.(115-117)Gag>Aag	p.E39K	RYR1_ENST00000359596.3_Missense_Mutation_p.E39K|RYR1_ENST00000360985.3_Missense_Mutation_p.E39K	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	39					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.E39K(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCTGGCCGCCGAGGGCTTCGG	0.682000													7	27					0	0	0.278610	0	0
MCTP1	79772	broad.mit.edu	37	5	94275893	94275893	+	Silent	SNP	T	T	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr5:94275893T>A	ENST00000515393.1	-	5	1067	c.1068A>T	c.(1066-1068)acA>acT	p.T356T	MCTP1_ENST00000312216.8_Silent_p.T135T|MCTP1_ENST00000429576.2_Silent_p.T135T|MCTP1_ENST00000505208.1_Silent_p.T135T	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	356					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	p.T356T(1)		breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		GGGTCACATCTGTGGGCCTGT	0.333000													43	101					0	0	0.834066	0	0
LTBP2	4053	broad.mit.edu	37	14	74988700	74988700	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr14:74988700C>T	ENST00000261978.4	-	17	3088	c.2702G>A	c.(2701-2703)cGc>cAc	p.R901H	LTBP2_ENST00000556690.1_Missense_Mutation_p.R901H	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	901	Cys-rich.|EGF-like 5; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	p.R901H(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GTTGATGCAGCGCCCTTTTCC	0.627000													5	57					0	0	0.184627	0	0
C2orf40	84417	broad.mit.edu	37	2	106694282	106694282	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr2:106694282G>A	ENST00000409944.1	+	5	470	c.239G>A	c.(238-240)gGc>gAc	p.G80D	C2orf40_ENST00000238044.3_Missense_Mutation_p.G116D			Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	116						extracellular region|transport vesicle		p.G116D(1)		lung(7)|urinary_tract(1)	8						GAATACTATGGCGATTACTAC	0.433000													40	64					0	0	0.834066	0	0
HFM1	164045	broad.mit.edu	37	1	91739336	91739336	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:91739336C>A	ENST00000370425.3	-	34	3803	c.3705G>T	c.(3703-3705)atG>atT	p.M1235I	HFM1_ENST00000294696.5_Missense_Mutation_p.M467I|HFM1_ENST00000370424.3_Missense_Mutation_p.M914I|HFM1_ENST00000462405.1_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1235							ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.M1235I(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CCCACTGCTCCATTATAGGCA	0.308000													14	164					2.31682e-05	2.42359e-05	0.479597	1	0
USP25	29761	broad.mit.edu	37	21	17203740	17203740	+	Silent	SNP	C	C	T	rs145101158		TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr21:17203740C>T	ENST00000285681.2	+	16	2154	c.1785C>T	c.(1783-1785)gcC>gcT	p.A595A	USP25_ENST00000285679.6_Silent_p.A595A|USP25_ENST00000351097.5_Intron|USP25_ENST00000400183.2_Silent_p.A595A	NM_001283042.1	NP_001269971.1	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	595					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.A595A(1)		breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		GATTACATGCCGTTTTAGTTC	0.373000													24	131					0	0	0.624587	0	0
LPPR4	9890	broad.mit.edu	37	1	99772549	99772549	+	Silent	SNP	C	C	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:99772549C>A	ENST00000370185.3	+	7	2772	c.2275C>A	c.(2275-2277)Cgg>Agg	p.R759R	LPPR4_ENST00000370184.1_Silent_p.R601R|LPPR4_ENST00000457765.1_Silent_p.R701R	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		759							phosphatidate phosphatase activity	p.R759R(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CTCCCCCACACGGGCTTATAA	0.458000													83	111					3.82636e-28	4.5715e-28	0.870114	1	0
ACKR2	1238	broad.mit.edu	37	3	42906025	42906025	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr3:42906025G>A	ENST00000422265.1	+	3	206	c.31G>A	c.(31-33)Gcc>Acc	p.A11T	CYP8B1_ENST00000437102.1_Intron|RP11-141M3.5_ENST00000471537.1_RNA|ACKR2_ENST00000442925.1_Missense_Mutation_p.A11T|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000273145.2_Missense_Mutation_p.A11T	NM_001296.4	NP_001287.2			atypical chemokine receptor 2									p.A11T(1)									GCAGCCACTCGCCACTGAGGA	0.542000													30	41					0	0	0.760397	0	0
OR6N1	128372	broad.mit.edu	37	1	158736303	158736303	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:158736303G>A	ENST00000335094.2	-	1	189	c.170C>T	c.(169-171)aCa>aTa	p.T57I		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T57I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					GTACATGGGTGTGTGAAGCCG	0.483000													29	98					0	0	0.717897	0	0
PRR23B	389151	broad.mit.edu	37	3	138738777	138738777	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr3:138738777C>T	ENST00000329447.5	-	1	991	c.727G>A	c.(727-729)Ggt>Agt	p.G243S	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	243	Pro-rich.							p.G243S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCGTGGGGACCTGGACTCCCC	0.652000													7	33					0	0	0.307466	0	0
PPBP	5473	broad.mit.edu	37	4	74853045	74853045	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr4:74853045G>T	ENST00000296028.3	-	3	424	c.331C>A	c.(331-333)Ccc>Acc	p.P111T		NM_002704.3	NP_002695.1	P02775	CXCL7_HUMAN	pro-platelet basic protein (chemokine (C-X-C motif) ligand 7)	111					chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division	extracellular space|platelet alpha granule lumen	chemokine activity|glucose transmembrane transporter activity|growth factor activity	p.P111T(1)		breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2)	10	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			TTGATTCTGGGAGCATCTGGG	0.428000													45	68					4.88482e-21	5.65742e-21	0.870114	1	0
FAT2	2196	broad.mit.edu	37	5	150934193	150934193	+	Silent	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr5:150934193G>A	ENST00000261800.5	-	4	3687	c.3675C>T	c.(3673-3675)acC>acT	p.T1225T		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1225	Cadherin 10.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.T1225T(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCACCCTGGAGGTGGACTTCA	0.517000													24	155					0	0	0.654019	0	0
DNAH3	55567	broad.mit.edu	37	16	21117941	21117941	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr16:21117941G>T	ENST00000261383.3	-	15	2153	c.2154C>A	c.(2152-2154)aaC>aaA	p.N718K	DNAH3_ENST00000415178.1_Missense_Mutation_p.N718K	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	718	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.N718K(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)		GCTCCTTAGTGTTGGCAGGAA	0.443000													27	72					7.26314e-15	8.0426e-15	0.717897	1	0
TTBK1	84630	broad.mit.edu	37	6	43226925	43226925	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr6:43226925T>C	ENST00000259750.4	+	11	1249	c.1166T>C	c.(1165-1167)gTc>gCc	p.V389A	TTBK1_ENST00000304139.5_Missense_Mutation_p.V338A	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	389						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.V389A(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCCCACCTTGTCCCCCACCCC	0.632000													10	81					0	0	0.361761	0	0
CCER1	196477	broad.mit.edu	37	12	91347836	91347836	+	Silent	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr12:91347836G>A	ENST00000358859.2	-	1	1117	c.684C>T	c.(682-684)gcC>gcT	p.A228A	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1									p.A228A(1)									CGGAGGATCTGGCTGGGGAGG	0.627000													94	152					0	0	0.870114	0	0
BGLAP	632	broad.mit.edu	37	1	156212941	156212941	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:156212941C>A	ENST00000368272.4	+	4	561	c.291C>A	c.(289-291)taC>taA	p.Y97*	PMF1-BGLAP_ENST00000368276.4_3'UTR|PMF1-BGLAP_ENST00000320139.5_3'UTR|PMF1-BGLAP_ENST00000490491.1_3'UTR	NM_199173.4	NP_954642.1	P02818	OSTCN_HUMAN	bone gamma-carboxyglutamate (gla) protein	97	Gla.				bone mineralization|cell adhesion|odontogenesis|regulation of bone mineralization|regulation of bone resorption|regulation of osteoclast differentiation		calcium ion binding|hydroxyapatite binding|structural constituent of bone	p.Y97*(1)		large_intestine(3)|lung(1)|urinary_tract(1)	5	Hepatocellular(266;0.158)				Phytonadione(DB01022)	GGCGCTTCTACGGCCCGGTCT	0.637000													48	143					8.72198e-27	1.03659e-26	0.870114	1	0
WDR52	55779	broad.mit.edu	37	3	113145001	113145001	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr3:113145001G>C	ENST00000393845.2	-	4	443	c.377C>G	c.(376-378)tCa>tGa	p.S126*	WDR52-AS1_ENST00000498480.1_RNA|WDR52_ENST00000295868.2_Nonsense_Mutation_p.S126*|WDR52-AS1_ENST00000473329.1_RNA	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	126								p.S126*(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TGGTATGTTTGAATCCAGAGT	0.393000													122	219					0	0	0.870114	0	0
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs150520281	by1000genomes	TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601																											CTTACATCCAGCTTGAGTAGT	0.259000													4	34					0	0	0.248553	0	0
LAP3	51056	broad.mit.edu	37	4	17606232	17606232	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr4:17606232G>T	ENST00000226299.4	+	11	1476	c.1202G>T	c.(1201-1203)gGa>gTa	p.G401V	AC006160.5_ENST00000511010.1_RNA|LAP3_ENST00000503467.1_3'UTR|LAP3_ENST00000606142.1_Missense_Mutation_p.G370V	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	401					proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding	p.G401V(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						GTAGCTTTGGGATCAGGTGCC	0.478000													11	114					7.03913e-09	7.50179e-09	0.411799	1	0
WDFY3	23001	broad.mit.edu	37	4	85781566	85781566	+	Splice_Site	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr4:85781566C>T	ENST00000322366.6	-	4	586	c.179G>A	c.(178-180)aGg>aAg	p.R60K	WDFY3_ENST00000295888.4_Splice_Site_p.R60K			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	60						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	p.R60K(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TGGACTTACCCTGTTAAACAC	0.507000													25	57					0	0	0.693898	0	0
SACS	26278	broad.mit.edu	37	13	23909550	23909550	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr13:23909550T>C	ENST00000382298.3	-	10	9053	c.8465A>G	c.(8464-8466)aAt>aGt	p.N2822S	SACS_ENST00000382292.3_Missense_Mutation_p.N2822S|SACS_ENST00000402364.1_Missense_Mutation_p.N2072S	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2822					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	p.N2822S(1)|p.N2675S(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GCCTGATCTATTACAAATTAG	0.388000													22	154					0	0	0.624587	0	0
ARAP1	116985	broad.mit.edu	37	11	72412744	72412744	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr11:72412744T>C	ENST00000359373.5	-	16	3103	c.2252A>G	c.(2251-2253)tAc>tGc	p.Y751C	ARAP1_ENST00000429686.1_Missense_Mutation_p.Y445C|ARAP1-AS2_ENST00000500163.2_RNA|ARAP1_ENST00000455638.2_Missense_Mutation_p.Y751C|ARAP1_ENST00000393605.3_Missense_Mutation_p.Y511C|ARAP1_ENST00000334211.8_Missense_Mutation_p.Y506C|ARAP1_ENST00000393609.3_Missense_Mutation_p.Y751C|ARAP1_ENST00000426523.1_Missense_Mutation_p.Y506C			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	751	PH 3.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	p.Y751C(1)|p.Y511C(1)		cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GGCAGTCTTGTAGAGGAAGCC	0.622000													48	143					0	0	0.870114	0	0
GPR61	83873	broad.mit.edu	37	1	110085756	110085756	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:110085756G>T	ENST00000527748.1	+	2	795	c.112G>T	c.(112-114)Gat>Tat	p.D38Y	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	38						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.D38Y(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGGGCTACGGGATGTTGCTTC	0.612000													32	206					1.39806e-14	1.54058e-14	0.729181	1	0
DTNA	1837	broad.mit.edu	37	18	32395882	32395882	+	Missense_Mutation	SNP	A	A	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr18:32395882A>T	ENST00000283365.9	+	8	964	c.613A>T	c.(613-615)Acg>Tcg	p.T205S	DTNA_ENST00000399097.3_De_novo_Start_InFrame|DTNA_ENST00000598774.1_Missense_Mutation_p.T205S|DTNA_ENST00000597599.1_Missense_Mutation_p.T205S|DTNA_ENST00000315456.6_Missense_Mutation_p.T205S|DTNA_ENST00000399113.3_Missense_Mutation_p.T205S|DTNA_ENST00000554864.3_Missense_Mutation_p.T205S|DTNA_ENST00000595022.1_Missense_Mutation_p.T205S|DTNA_ENST00000598142.1_Missense_Mutation_p.T205S|DTNA_ENST00000269191.6_Missense_Mutation_p.T205S|DTNA_ENST00000598334.1_Missense_Mutation_p.T205S|DTNA_ENST00000348997.5_Missense_Mutation_p.T205S|DTNA_ENST00000444659.1_Missense_Mutation_p.T205S|DTNA_ENST00000269190.7_Missense_Mutation_p.T205S|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000399121.5_Missense_Mutation_p.T205S	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	205	Interaction with MAGEE1 (By similarity).				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	p.T205S(5)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GAAAAAAGTCACGTTAAATGG	0.398000													15	149					0	0	0.479597	0	0
NANOS3	342977	broad.mit.edu	37	19	13988556	13988556	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr19:13988556G>T	ENST00000397555.2	+	2	437	c.437G>T	c.(436-438)cGc>cTc	p.R146L	NANOS3_ENST00000591727.1_Intron|NANOS3_ENST00000339133.5_Missense_Mutation_p.R165L	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	nanos homolog 3 (Drosophila)	146					anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding	p.R165L(1)		breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			ACAGGCCACCGCCGAGGAGGA	0.652000													8	4					1.06961e-07	1.12931e-07	0.278610	1	0
NOTCH1	4851	broad.mit.edu	37	9	139396836	139396836	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr9:139396836G>T	ENST00000277541.6	-	28	5347	c.5272C>A	c.(5272-5274)Cgc>Agc	p.R1758S		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1758					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.R1758S(1)|p.R1759S(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGGCGCTTGCGGGACAGCAGC	0.687000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			3	37					0.00909568	0.0092175	0.150653	1	0
PCDHB18P	54660	broad.mit.edu	37	5	140616205	140616205	+	RNA	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr5:140616205G>A	ENST00000526308.1	+	0	2268					NR_001281.1													p.A640A(1)		endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						TGGTGGTGGCGTTGGCCTCGG	0.682000													63	155					0	0	0.870114	0	0
CENPE	1062	broad.mit.edu	37	4	104061057	104061057	+	Silent	SNP	A	A	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr4:104061057A>G	ENST00000265148.3	-	38	6182	c.6093T>C	c.(6091-6093)ctT>ctC	p.L2031L	CENPE_ENST00000380026.3_Intron	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2031					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	p.L2031L(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTATTTCTTCAAGGCTTTCAT	0.358000													47	96					0	0	0.870114	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45504129	45504129	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr21:45504129G>A	ENST00000291574.4	+	15	2540	c.2365G>A	c.(2365-2367)Gtg>Atg	p.V789M		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	789					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	p.V789M(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CCAGCTGCACGTGGAGCCGCT	0.627000													4	35					0	0	0.150653	0	0
RPS7	6201	broad.mit.edu	37	2	3627748	3627748	+	Silent	SNP	C	C	T	rs149082052		TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr2:3627748C>T	ENST00000407445.3	+	6	452	c.405C>T	c.(403-405)ttC>ttT	p.F135F	RPS7_ENST00000406376.1_Silent_p.F135F|RPS7_ENST00000304921.5_Silent_p.F135F|RPS7_ENST00000403564.1_Silent_p.F135F			P62081	RS7_HUMAN	ribosomal protein S7	135					endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleolus|small-subunit processome	protein binding|RNA binding|structural constituent of ribosome	p.F135F(1)		endometrium(1)|lung(2)|urinary_tract(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208)		ACTTGGTCTTCCCAAGCGAAA	0.493000													67	94					0	0	0.870114	0	0
GTF3C2	2976	broad.mit.edu	37	2	27551030	27551030	+	Silent	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr2:27551030C>T	ENST00000359541.2	-	17	2712	c.2283G>A	c.(2281-2283)ccG>ccA	p.P761P	GTF3C2_ENST00000264720.3_Silent_p.P761P			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	761						transcription factor TFIIIC complex		p.P761P(2)		central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTCCTGATACGGTATCAGAT	0.443000													28	53					0	0	0.769981	0	0
CSGALNACT2	55454	broad.mit.edu	37	10	43662480	43662480	+	Silent	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr10:43662480C>T	ENST00000374466.3	+	6	1523	c.1188C>T	c.(1186-1188)ttC>ttT	p.F396F		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	396					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	p.F396F(1)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CTGTGGTGTTCAGTCTTTACA	0.373000													19	44					0	0	0.539581	0	0
PCDHB5	26167	broad.mit.edu	37	5	140517344	140517344	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr5:140517344G>T	ENST00000231134.5	+	1	2545	c.2328G>T	c.(2326-2328)caG>caT	p.Q776H		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		776					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.Q776H(1)|p.Q776Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTTGCCCCAGGGCGCTGGTG	0.502000													86	173					2.06477e-34	2.4931e-34	0.870114	1	0
LINGO3	645191	broad.mit.edu	37	19	2290293	2290293	+	Silent	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr19:2290293G>A	ENST00000585527.1	-	1	1730	c.1483C>T	c.(1483-1485)Ctg>Ttg	p.L495L	LINGO3_ENST00000404279.1_Silent_p.L495L			P0C6S8	LIGO3_HUMAN	leucine rich repeat and Ig domain containing 3	495	Ig-like C2-type.					integral to membrane		p.L495L(1)		lung(1)|urinary_tract(1)	2						CGCACGGTCAGCGTGGCGAAG	0.746000													6	15					0	0	0.217242	0	0
CTD-2192J16.20	0	broad.mit.edu	37	19	12691722	12691722	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr19:12691722G>A	ENST00000593682.1	-	1	67	c.68C>T	c.(67-69)cCt>cTt	p.P23L	ZNF490_ENST00000311437.6_Silent_p.P389P														p.P389P(1)									TACATTCATAGGGTTTTTCTC	0.393000													22	132					0	0	0.639603	0	0
FAM169B	283777	broad.mit.edu	37	15	99023900	99023900	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr15:99023900G>A	ENST00000558256.1	-	4	362	c.113C>T	c.(112-114)tCt>tTt	p.S38F	FAM169B_ENST00000332908.4_Missense_Mutation_p.S38F	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	38								p.S38F(1)		large_intestine(3)|lung(3)|urinary_tract(1)	7						TTCCTTCACAGAGTGAGGTAG	0.443000													42	60					0	0	0.859065	0	0
HERC2	8924	broad.mit.edu	37	15	28421741	28421741	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr15:28421741C>A	ENST00000261609.7	-	63	9627	c.9519G>T	c.(9517-9519)ttG>ttT	p.L3173F		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3173					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.L3173>?(1)|p.L3173F(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AGGAAAATACCAAACCTAGGT	0.498000													73	192					9.21137e-24	1.08905e-23	0.870114	1	0
LOC647264	647264	broad.mit.edu	37	13	64321208	64321208	+	Missense_Mutation	SNP	T	T	A	rs141510771	by1000genomes	TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr13:64321208T>A	ENST00000453638.2	+	1	275	c.275T>A	c.(274-276)tTc>tAc	p.F92Y															p.F92Y(2)		endometrium(2)|lung(1)|urinary_tract(1)	4						ggaactggcttcggctgtggg	0.557000													4	13					0	0	0.150653	0	0
PCDH11X	27328	broad.mit.edu	37	X	91132785	91132785	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chrX:91132785G>C	ENST00000373094.1	+	2	2391	c.1546G>C	c.(1546-1548)Gat>Cat	p.D516H	PCDH11X_ENST00000504220.2_Missense_Mutation_p.D516H|PCDH11X_ENST00000298274.8_Missense_Mutation_p.D516H|PCDH11X_ENST00000361724.1_Missense_Mutation_p.D516H|PCDH11X_ENST00000406881.1_Missense_Mutation_p.D516H|PCDH11X_ENST00000373088.1_Missense_Mutation_p.D516H|PCDH11X_ENST00000395337.2_Missense_Mutation_p.D516H|PCDH11X_ENST00000373097.1_Missense_Mutation_p.D516H|PCDH11X_ENST00000361655.2_Missense_Mutation_p.D516H	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	516	Cadherin 5.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.D516H(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ATTCAGCCTGGATTGTCGTAC	0.438000													36	27					0	0	0.769981	0	0
ITGA8	8516	broad.mit.edu	37	10	15600156	15600156	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr10:15600156G>A	ENST00000378076.3	-	26	3036	c.2683C>T	c.(2683-2685)Cga>Tga	p.R895*		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	895					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.R895*(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GTAGAGTTTCGCAAAAAGGCG	0.473000													16	109					0	0	0.500413	0	0
ADHFE1	137872	broad.mit.edu	37	8	67357551	67357551	+	Missense_Mutation	SNP	T	T	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr8:67357551T>A	ENST00000396623.3	+	6	483	c.452T>A	c.(451-453)cTg>cAg	p.L151Q	ADHFE1_ENST00000415254.1_Missense_Mutation_p.L103Q|ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000379385.4_Missense_Mutation_p.L151Q	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	151					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding	p.L151Q(1)|p.L103Q(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GCTGCTAATCTGTATGCATCC	0.493000													10	247					0	0	0.335167	0	0
HERC2	8924	broad.mit.edu	37	15	28421740	28421740	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr15:28421740C>A	ENST00000261609.7	-	63	9628	c.9520G>T	c.(9520-9522)Gta>Tta	p.V3174L		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3174					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.V3174L(1)|p.L3173>?(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CAGGAAAATACCAAACCTAGG	0.493000													73	191					1.52808e-22	1.79728e-22	0.870114	1	0
RIMS3	9783	broad.mit.edu	37	1	41101634	41101634	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:41101634G>A	ENST00000372684.3	-	4	782	c.313C>T	c.(313-315)Cgg>Tgg	p.R105W	RIMS3_ENST00000372683.1_Missense_Mutation_p.R105W	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	105					neurotransmitter transport	cell junction|synapse		p.R105W(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			GTGGACTCCCGGCTGCCCTGG	0.682000													7	91					0	0	0.278610	0	0
GID8	54994	broad.mit.edu	37	20	61572869	61572869	+	Silent	SNP	A	A	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr20:61572869A>G	ENST00000266069.3	+	2	162	c.15A>G	c.(13-15)gaA>gaG	p.E5E		NM_017896.2	NP_060366.1			GID complex subunit 8									p.E5E(1)									GTTATGCAGAAAAACCCGATG	0.458000													15	50					0	0	0.479597	0	0
IL21R	50615	broad.mit.edu	37	16	27460030	27460030	+	Missense_Mutation	SNP	A	A	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr16:27460030A>T	ENST00000337929.3	+	9	1516	c.1043A>T	c.(1042-1044)aAg>aTg	p.K348M	IL21R_ENST00000564089.1_Missense_Mutation_p.K348M|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000395755.1_Missense_Mutation_p.K348M|IL21R_ENST00000395754.4_Missense_Mutation_p.K348M	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	348					natural killer cell activation	integral to membrane	interleukin-21 receptor activity	p.K348M(1)		breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GGTGTGCCCAAGCCCAGCTTC	0.627000			T	BCL6	NHL								25	79					0	0	0.706142	0	0
COL13A1	1305	broad.mit.edu	37	10	71677085	71677085	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr10:71677085C>T	ENST00000356340.3	+	17	1528	c.992C>T	c.(991-993)gCc>gTc	p.A331V	COL13A1_ENST00000354547.3_Missense_Mutation_p.A309V|COL13A1_ENST00000398974.3_Missense_Mutation_p.A319V|COL13A1_ENST00000520267.1_Missense_Mutation_p.A274V|COL13A1_ENST00000398971.3_Missense_Mutation_p.A331V|COL13A1_ENST00000398968.3_Missense_Mutation_p.A312V|COL13A1_ENST00000398978.3_Missense_Mutation_p.A331V|COL13A1_ENST00000398964.3_Missense_Mutation_p.A302V|COL13A1_ENST00000398972.3_Missense_Mutation_p.A331V|COL13A1_ENST00000398966.3_Missense_Mutation_p.A309V|COL13A1_ENST00000398969.3_Missense_Mutation_p.A274V|COL13A1_ENST00000520133.1_Missense_Mutation_p.A280V|COL13A1_ENST00000517713.1_Missense_Mutation_p.A309V|COL13A1_ENST00000398973.3_Missense_Mutation_p.A331V|COL13A1_ENST00000357811.3_Missense_Mutation_p.A309V|COL13A1_ENST00000522165.1_Missense_Mutation_p.A312V			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	331	Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding	p.A314V(1)|p.A331V(1)		endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	AAGCATGGAGCCAAGGTACCT	0.637000													8	46					0	0	0.278610	0	0
PCDHGA10	56106	broad.mit.edu	37	5	140795157	140795157	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr5:140795157A>G	ENST00000398610.2	+	1	2415	c.2415A>G	c.(2413-2415)atA>atG	p.I805M	PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1												p.I805M(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTTTCCTATAGAGGATACCC	0.393000													12	37					0	0	0.435327	0	0
CACTIN	58509	broad.mit.edu	37	19	3623701	3623701	+	Silent	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr19:3623701G>A	ENST00000429344.2	-	2	679	c.627C>T	c.(625-627)acC>acT	p.T209T	CACTIN_ENST00000248420.5_Silent_p.T209T|CACTIN_ENST00000221899.3_Silent_p.T141T	NM_001080543.1	NP_001074012.1			cactin, spliceosome C complex subunit									p.T209T(1)|p.T141T(1)									TCCAGATGAAGGTGCCCAGCA	0.592000													3	24					0	0	0.115264	0	0
NELL2	4753	broad.mit.edu	37	12	45269642	45269642	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr12:45269642C>T	ENST00000429094.2	-	1	515	c.11G>A	c.(10-12)cGg>cAg	p.R4Q	NELL2_ENST00000452445.2_Missense_Mutation_p.R4Q|NELL2_ENST00000548826.1_Missense_Mutation_p.R4Q|NELL2_ENST00000437801.2_Missense_Mutation_p.R54Q|NELL2_ENST00000333837.4_Missense_Mutation_p.R27Q|NELL2_ENST00000549027.1_5'UTR|NELL2_ENST00000551601.1_5'UTR	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	4					cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	p.R4Q(1)|p.R54Q(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CAGTAAGACCCGAGACTCCAT	0.517000													18	99					0	0	0.557998	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576735	33576735	+	Silent	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr5:33576735G>A	ENST00000504830.1	-	19	3731	c.3396C>T	c.(3394-3396)tcC>tcT	p.S1132S	ADAMTS12_ENST00000352040.3_Silent_p.S1047S	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1132	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.S1132S(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TAGGGTTGCGGGAAGATGACA	0.483000										HNSCC(64;0.19)			25	107					0	0	0.654019	0	0
OR9G4	283189	broad.mit.edu	37	11	56510738	56510738	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr11:56510738A>G	ENST00000302957.3	-	1	549	c.550T>C	c.(550-552)Tgt>Cgt	p.C184R		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C184R(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TTTTTACCACAAAAATGCAGG	0.453000													42	72					0	0	0.840704	0	0
TTK	7272	broad.mit.edu	37	6	80723066	80723066	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr6:80723066G>T	ENST00000509894.1	+	9	1796	c.967G>T	c.(967-969)Gaa>Taa	p.E323*	TTK_ENST00000369798.2_Nonsense_Mutation_p.E323*|TTK_ENST00000230510.3_Nonsense_Mutation_p.E323*			P33981	TTK_HUMAN	TTK protein kinase	323					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E323*(1)|p.E307*(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TGATTCCTGTGAATTAAGAAA	0.353000													44	127					1.35964e-18	1.52038e-18	0.870114	1	0
TTN	7273	broad.mit.edu	37	2	179583684	179583684	+	Missense_Mutation	SNP	T	T	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr2:179583684T>A	ENST00000589042.1	-	84	24467	c.24243A>T	c.(24241-24243)gaA>gaT	p.E8081D	TTN_ENST00000342992.6_Missense_Mutation_p.E6837D|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E7764D|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7764	Ig-like 63.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E6837D(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)			CAGGGGTTTGTTCAAAAGATG	0.448000													10	11					0	0	0.387290	0	0
UTP14C	9724	broad.mit.edu	37	13	52604079	52604079	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr13:52604079G>A	ENST00000521776.2	+	2	1872	c.1139G>A	c.(1138-1140)aGt>aAt	p.S380N		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	380					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome		p.S380N(1)		breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		AGCTGCACCAGTGACACCAAA	0.537000													40	61					0	0	0.812448	0	0
STXBP5	134957	broad.mit.edu	37	6	147704100	147704100	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr6:147704100C>G	ENST00000367481.3	+	25	3380	c.3272C>G	c.(3271-3273)tCa>tGa	p.S1091*	STXBP5_ENST00000321680.6_Nonsense_Mutation_p.S1127*|STXBP5_ENST00000367480.3_Nonsense_Mutation_p.S1074*|STXBP5_ENST00000179882.6_Nonsense_Mutation_p.S782*	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	1127	v-SNARE coiled-coil homology.				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	p.S1091*(1)|p.S1127*(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GCCATGTTATCAAGTGCAGAG	0.428000													38	53					0	0	0.812448	0	0
LHX8	431707	broad.mit.edu	37	1	75622760	75622760	+	Splice_Site	SNP	T	T	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:75622760T>A	ENST00000294638.5	+	9	1657	c.993T>A	c.(991-993)gaT>gaA	p.D331E	LHX8_ENST00000356261.3_Splice_Site_p.D321E	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	331						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D331E(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						GTTATATGGATGGTAGGTATC	0.418000													57	58					0	0	0.870114	0	0
SLC7A1	6541	broad.mit.edu	37	13	30110084	30110084	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr13:30110084C>T	ENST00000380752.5	-	3	628	c.242G>A	c.(241-243)gGc>gAc	p.G81D		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	81					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity	p.G81D(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	ATAGCACAGGCCAGCCAGCAC	0.617000													14	57					0	0	0.539581	0	0
CFH	3075	broad.mit.edu	37	1	196658607	196658607	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:196658607G>A	ENST00000367429.4	+	8	1262	c.1022G>A	c.(1021-1023)cGt>cAt	p.R341H	CFH_ENST00000439155.2_Missense_Mutation_p.R341H|CFH_ENST00000359637.2_Missense_Mutation_p.R277H	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	341	Sushi 6.				complement activation, alternative pathway	extracellular space		p.R341H(2)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GAGAATATGCGTAGACCATAC	0.333000													20	86					0	0	0.608945	0	0
NELL1	4745	broad.mit.edu	37	11	21592405	21592405	+	Silent	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr11:21592405T>C	ENST00000298925.5	+	19	2313	c.2160T>C	c.(2158-2160)agT>agC	p.S720S	NELL1_ENST00000325319.5_Silent_p.S635S|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000357134.5_Silent_p.S692S|NELL1_ENST00000532434.1_Silent_p.S645S			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	692	VWFC 4.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	p.S692S(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GAGTCACAAGTCAATGTTTAG	0.468000													38	138					0	0	0.847076	0	0
ZNF606	80095	broad.mit.edu	37	19	58491249	58491249	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr19:58491249C>T	ENST00000341164.4	-	7	1419	c.799G>A	c.(799-801)Gac>Aac	p.D267N	ZNF606_ENST00000536132.1_Missense_Mutation_p.D177N	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D267N(2)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		ACAGTTTTGTCATAATCATTA	0.338000													135	170					0	0	0.870114	0	0
FBXO40	51725	broad.mit.edu	37	3	121345737	121345737	+	Nonsense_Mutation	SNP	C	C	T	rs139292085		TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr3:121345737C>T	ENST00000338040.4	+	4	2524	c.2110C>T	c.(2110-2112)Cga>Tga	p.R704*		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	704					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding	p.R704G(1)|p.R704*(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		AATCAGACCACGAGGAAGATA	0.483000													31	62					0	0	0.760397	0	0
PRDM14	63978	broad.mit.edu	37	8	70981498	70981498	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr8:70981498C>G	ENST00000276594.2	-	2	799	c.598G>C	c.(598-600)Gag>Cag	p.E200Q		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E200Q(1)		NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TGCAGGTCCTCCTCCGTGAAC	0.602000													42	85					0	0	0.827153	0	0
GINM1	116254	broad.mit.edu	37	6	149893469	149893469	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr6:149893469T>C	ENST00000367419.5	+	2	290	c.169T>C	c.(169-171)Tct>Cct	p.S57P		NM_138785.3	NP_620140.1			glycoprotein integral membrane 1									p.S57P(1)									TGGGGACATATCTAAACAGCA	0.343000													25	51					0	0	0.639603	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2413950	2413950	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr19:2413950C>T	ENST00000332578.3	+	9	1405	c.1405C>T	c.(1405-1407)Ccc>Tcc	p.P469S		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	469					proteolysis	integral to plasma membrane	serine-type endopeptidase activity	p.P469S(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTCAGCACCCCCACCAAATC	0.607000													4	27					0	0	0.150653	0	0
IGHG1	3500	broad.mit.edu	37	14	106207966	106207966	+	RNA	SNP	G	G	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr14:106207966G>C	ENST00000390548.2	-	0	836																											AGTCCAGCACGGGAGGCGTGG	0.597000													54	274					0	0	0.870114	0	0
TIGD2	166815	broad.mit.edu	37	4	90035429	90035429	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr4:90035429G>T	ENST00000317005.2	+	1	1462	c.1304G>T	c.(1303-1305)cGg>cTg	p.R435L		NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	435					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	p.R435L(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		TTCGACTCTCGGAGCAGTGAC	0.443000													30	46					1.7881e-09	1.92369e-09	0.729181	1	0
CARD6	84674	broad.mit.edu	37	5	40843579	40843579	+	Silent	SNP	A	A	G			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr5:40843579A>G	ENST00000254691.5	+	2	808	c.609A>G	c.(607-609)ctA>ctG	p.L203L	CARD6_ENST00000381677.3_Silent_p.L203L	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	203	Asp/Glu-rich.				apoptosis|regulation of apoptosis	intracellular		p.L203L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						ATGAGGAGCTAGATGATTCTT	0.393000													16	52					0	0	0.479597	0	0
TRIM48	79097	broad.mit.edu	37	11	55036744	55036744	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr11:55036744C>T	ENST00000417545.2	+	5	691	c.605C>T	c.(604-606)cCc>cTc	p.P202L		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	186						intracellular	zinc ion binding	p.P186L(1)|p.P202L(1)		endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CTGCACATGCCCCAGCCTCTG	0.502000													35	74					0	0	0.819951	0	0
VPS13C	54832	broad.mit.edu	37	15	62176469	62176469	+	Splice_Site	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr15:62176469C>T	ENST00000261517.5	-	68	9415		c.e68-1		VPS13C_ENST00000395896.4_Splice_Site|VPS13C_ENST00000249837.3_Splice_Site|VPS13C_ENST00000395898.3_Splice_Site	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)						protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AACACCAGAACTAAATAATTC	0.299000													14	55					0	0	0.479597	0	0
STAT5B	6777	broad.mit.edu	37	17	40370182	40370182	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr17:40370182C>T	ENST00000293328.3	-	9	1324	c.1156G>A	c.(1156-1158)Gag>Aag	p.E386K		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	386					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity	p.E386K(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	CGGGTGTTCTCGTTCTTGAGC	0.547000													17	26					0	0	0.520397	0	0
RASSF1	11186	broad.mit.edu	37	3	50369047	50369047	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr3:50369047C>T	ENST00000359365.4	-	4	809	c.703G>A	c.(703-705)Gtg>Atg	p.V235M	RASSF1_ENST00000357043.2_Missense_Mutation_p.V239M|RASSF1_ENST00000327761.3_Missense_Mutation_p.V165M|RASSF1_ENST00000395126.3_Missense_Mutation_p.V84M	NM_001206957.1|NM_007182.4|NM_170714.1	NP_001193886.1|NP_009113.3|NP_733832.1	Q9NS23	RASF1_HUMAN	Ras association (RalGDS/AF-6) domain family member 1	239	Ras-associating.				cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein binding|protein N-terminus binding|zinc ion binding	p.V165M(1)|p.V239M(1)		lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TCATCCACCACCAAGAACTTT	0.577000													16	114					0	0	0.500413	0	0
DHX35	60625	broad.mit.edu	37	20	37662873	37662873	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr20:37662873G>T	ENST00000252011.3	+	21	2013	c.1980G>T	c.(1978-1980)caG>caT	p.Q660H	DHX35_ENST00000373325.2_Missense_Mutation_p.Q636H|DHX35_ENST00000373323.4_Missense_Mutation_p.Q629H	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	660						catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.Q660H(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				AAGTTATACAGACCTCCAAGT	0.448000													23	82					3.7963e-18	4.22432e-18	0.654019	1	0
UBBP4	23666	broad.mit.edu	37	17	21731532	21731532	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr17:21731532G>A	ENST00000578713.1	+	2	611	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584755.1_3'UTR														p.E203K(2)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						CAAGAAGTTGGAAGATGGCCG	0.532000													15	46					0	0	0.457914	0	0
PAOX	196743	broad.mit.edu	37	10	135203207	135203207	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr10:135203207G>A	ENST00000278060.5	+	6	1431	c.1348G>A	c.(1348-1350)Gac>Aac	p.D450N	PAOX_ENST00000357296.3_Intron|PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000480071.2_Intron	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	588					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity	p.D450N(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		GGGCGACCTGGACCTGCTGGC	0.741000													14	44					0	0	0.500413	0	0
LRP1B	53353	broad.mit.edu	37	2	141283905	141283905	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr2:141283905T>C	ENST00000389484.3	-	48	8748	c.7777A>G	c.(7777-7779)Acg>Gcg	p.T2593A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2593	LDL-receptor class A 13.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.T2593A(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AACTCAACCGTGGCACAGGTT	0.388000										TSP Lung(27;0.18)			29	42					0	0	0.729181	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885212	88885212	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr8:88885212C>A	ENST00000319675.3	-	1	1084	c.988G>T	c.(988-990)Gcg>Tcg	p.A330S		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	330								p.A330S(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CCCACGGCCGCCACGACTCCT	0.567000													32	56					1.21669e-08	1.2906e-08	0.779181	1	0
SPTA1	6708	broad.mit.edu	37	1	158631163	158631163	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr1:158631163C>T	ENST00000368147.4	-	18	2681	c.2501G>A	c.(2500-2502)aGg>aAg	p.R834K		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	p.R834K(1)		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)					GACTCTATGCCTATTCAGAAG	0.423000													36	140					0	0	0.804634	0	0
ZNF831	128611	broad.mit.edu	37	20	57768011	57768011	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr20:57768011G>A	ENST00000371030.2	+	1	1937	c.1937G>A	c.(1936-1938)aGg>aAg	p.R646K		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	646						intracellular	nucleic acid binding|zinc ion binding	p.R646K(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AAGAAAGCCAGGGAGGTGGGA	0.567000													46	127					0	0	0.870114	0	0
TRHR	7201	broad.mit.edu	37	8	110100523	110100523	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr8:110100523G>A	ENST00000518632.1	+	2	1133	c.782G>A	c.(781-783)aGg>aAg	p.R261K	TRHR_ENST00000311762.2_Missense_Mutation_p.R261K			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	261						integral to plasma membrane	thyrotropin-releasing hormone receptor activity	p.R261K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GTATCTTCAAGGAAGCAGGTA	0.383000													16	46					0	0	0.500413	0	0
TDRD3	81550	broad.mit.edu	37	13	61041463	61041463	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr13:61041463G>T	ENST00000196169.3	+	5	954	c.166G>T	c.(166-168)Gtt>Ttt	p.V56F	TDRD3_ENST00000377894.2_Missense_Mutation_p.V56F|TDRD3_ENST00000377881.2_Missense_Mutation_p.V56F|TDRD3_ENST00000535286.1_Missense_Mutation_p.V149F	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	56					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity	p.V56F(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		TAACACCACAGTTCTTGGTGG	0.383000													70	107					1.79293e-35	2.18815e-35	0.870114	1	0
H1FX	8971	broad.mit.edu	37	3	129034529	129034529	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr3:129034529C>T	ENST00000333762.4	-	1	591	c.217G>A	c.(217-219)Gag>Aag	p.E73K	H1FX-AS1_ENST00000433902.2_RNA|H1FX-AS1_ENST00000511998.1_RNA	NM_006026.3	NP_006017.1	Q92522	H1X_HUMAN	H1 histone family, member X	73	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding	p.E73K(1)		kidney(1)|ovary(1)|urinary_tract(2)	4						TTCTTGGCCTCGGTGTAGATC	0.597000													7	5					0	0	0.278610	0	0
SCAP	22937	broad.mit.edu	37	3	47461048	47461048	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr3:47461048delG	ENST00000265565.5	-	13	2122	c.1710delC	c.(1708-1710)cccfs	p.P570fs	SCAP_ENST00000441517.2_Frame_Shift_Del_p.P315fs|SCAP_ENST00000545718.1_Frame_Shift_Del_p.P178fs	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	570					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CCGGGTGGCTGGGGGGCAGCA	0.657													11	92	---	---	---	---					
FAT4	79633	broad.mit.edu	37	4	126412722	126412722	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr4:126412722delC	ENST00000394329.3	+	17	14758	c.14745delC	c.(14743-14745)aacfs	p.N4915fs	FAT4_ENST00000335110.5_Frame_Shift_Del_p.N3156fs	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4915					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTGCTGACAACACACTGCCCA	0.552													33	51	---	---	---	---					
AMACR	23600	broad.mit.edu	37	5	34008088	34008089	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr5:34008088_34008089delCG	ENST00000335606.6	-	1	124_125	c.36_37delCG	c.(34-39)tccggcfs	p.G13fs	AMACR_ENST00000502637.1_Frame_Shift_Del_p.G13fs|RP11-1084J3.4_ENST00000382079.3_Intron|AMACR_ENST00000514195.1_5'UTR|AMACR_ENST00000382085.3_Frame_Shift_Del_p.G13fs|AMACR_ENST00000382068.3_Frame_Shift_Del_p.G13fs|AMACR_ENST00000382072.2_Frame_Shift_Del_p.G13fs|AMACR_ENST00000441713.2_Frame_Shift_Del_p.G13fs|AMACR_ENST00000426255.2_Frame_Shift_Del_p.G13fs|AMACR_ENST00000512079.1_Frame_Shift_Del_p.G13fs	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	13					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						GGGGCCAGGCCGGACAGCTCCA	0.688													15	71	---	---	---	---					
BTN2A3P	54718	broad.mit.edu	37	6	26430816	26430817	+	RNA	INS	-	-	A	rs34293101		TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr6:26430816_26430817insA	ENST00000466808.2	+	0	1447																											agctcagtctcaaaaaaaaaaa	0.540													3	5	---	---	---	---					
LY6G6D	58530	broad.mit.edu	37	6	31675681	31675681	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr6:31675681delC	ENST00000503322.1	+	3	419	c.416delC	c.(415-417)tccfs	p.S139fs	XXbac-BPG32J3.20_ENST00000461287.1_Intron|LY6G6F_ENST00000556581.1_Frame_Shift_Del_p.S139fs|LY6G6F_ENST00000375832.4_Frame_Shift_Del_p.S139fs																							GCAGATGGATCCCCCTGCAAT	0.602													38	121	---	---	---	---					
GTF2IRD1P1	729156	broad.mit.edu	37	7	66304731	66304731	+	RNA	DEL	T	T	-			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr7:66304731delT	ENST00000457166.1	-	0	189					NR_003934.1																						TTTCTTTCCCttttttttttt	0.512													3	4	---	---	---	---					
PMS2P4	5382	broad.mit.edu	37	7	66762433	66762433	+	RNA	DEL	A	A	-	rs68053451		TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr7:66762433delA	ENST00000414507.1	-	0	184																											tctcaaaaagaaaaaaaaaaa	0.408													3	4	---	---	---	---					
CDHR5	53841	broad.mit.edu	37	11	618994	618994	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr11:618994delG	ENST00000358353.3	-	14	1887	c.1565delC	c.(1564-1566)ccgfs	p.P522fs	CDHR5_ENST00000397542.2_Frame_Shift_Del_p.P522fs|CDHR5_ENST00000349570.7_Intron			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	522					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						TTCTGCACCCGGGGGCCCCCC	0.677													50	208	---	---	---	---					
P2RX3	5024	broad.mit.edu	37	11	57137457	57137457	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr11:57137457delC	ENST00000263314.2	+	12	1215	c.1181delC	c.(1180-1182)tccfs	p.S394fs		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	394					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						GGGGCCTTCTCCATAGGCCAC	0.612													14	63	---	---	---	---					
OR11H12	440153	broad.mit.edu	37	14	19377902	19377903	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr14:19377902_19377903insA	ENST00000550708.1	+	1	381_382	c.309_310insA	c.(310-312)aaafs	p.K104fs		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCCTTTCAGAGAAAAAAAACAT	0.386													19	140	---	---	---	---					
GOLGA6B	55889	broad.mit.edu	37	15	72958135	72958136	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-CU-A0YN-01A-21D-A10S-08	TCGA-CU-A0YN-11A-11D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	803ab221-b813-4bcc-95a9-1f686d172d3c	49028d3a-8afa-4a54-8e26-89e61f95c688	g.chr15:72958135_72958136delCC	ENST00000421285.3	+	16	1709_1710	c.1709_1710delCC	c.(1708-1710)accfs	p.T570fs		NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	570										NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						GAGTCCTTCACCGTATATGAAA	0.629													8	168	---	---	---	---