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
ENDOD1	23052	broad.mit.edu	37	11	94862342	94862342	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:94862342G>A	ENST00000278505.4	+	2	1220	c.1102G>A	c.(1102-1104)Gtg>Atg	p.V368M		NM_015036.2	NP_055851.1	O94919	ENDD1_HUMAN	endonuclease domain containing 1	368						extracellular region	endonuclease activity|metal ion binding|nucleic acid binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				TACCAAGCAGGTGATTAATGG	0.443000													10	67					0	0	0.000673444	0	0
SLC8A3	6547	broad.mit.edu	37	14	70522526	70522526	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr14:70522526G>A	ENST00000381269.2	-	4	2646	c.1893C>T	c.(1891-1893)ctC>ctT	p.L631L	SLC8A3_ENST00000357887.3_Silent_p.L632L|SLC8A3_ENST00000528359.1_Silent_p.L632L|SLC8A3_ENST00000533541.1_Intron|SLC8A3_ENST00000356921.2_Intron|SLC8A3_ENST00000394330.2_Intron|SLC8A3_ENST00000216568.7_Intron|SLC8A3_ENST00000534137.1_Silent_p.L631L	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	631					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GAGATAACAGGAGCGCTGTTT	0.413000													13	33					0	0	0.000308642	0	0
UNC79	57578	broad.mit.edu	37	14	94041526	94041526	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr14:94041526G>A	ENST00000553484.1	+	17	2347	c.2193G>A	c.(2191-2193)ggG>ggA	p.G731G	UNC79_ENST00000256339.4_Silent_p.G554G|UNC79_ENST00000555664.1_Silent_p.G731G|UNC79_ENST00000393151.2_Silent_p.G731G			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	731						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AACTGGCAGGGAACCTTGCAT	0.383000													17	25					0	0	0.00121646	0	0
MYO3A	53904	broad.mit.edu	37	10	26241128	26241128	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:26241128G>A	ENST00000265944.5	+	3	255	c.89G>A	c.(88-90)gGa>gAa	p.G30E	MYO3A_ENST00000543632.1_Missense_Mutation_p.G30E|MYO3A_ENST00000376301.1_Missense_Mutation_p.G30E|MYO3A_ENST00000376302.1_Missense_Mutation_p.G30E	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	30	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ATTGGCAAAGGAACTTATGGG	0.323000													19	33					0	0	0.000958276	0	0
CCR3	1232	broad.mit.edu	37	3	46307563	46307563	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:46307563G>A	ENST00000357422.2	+	4	1457	c.914G>A	c.(913-915)gGa>gAa	p.G305E	CCR3_ENST00000545097.1_Missense_Mutation_p.G326E|CCR3_ENST00000395942.2_Missense_Mutation_p.G305E|CCR3_ENST00000541018.1_Missense_Mutation_p.G305E|CCR3_ENST00000395940.2_Missense_Mutation_p.G305E			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	305					cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		GCCTTTGTTGGAGAGAGGTTC	0.552000													8	23					0	0	0.000673444	0	0
RP11-998D10.1	0	broad.mit.edu	37	14	21501931	21501931	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr14:21501931G>A	ENST00000531638.1	+	2	369	c.267G>A	c.(265-267)tgG>tgA	p.W89*	NDRG2_ENST00000403829.3_Intron|RNASE13_ENST00000382951.3_3'UTR																							GTTGGAAATGGAGACAGCTGG	0.527000													15	29					0	0	0.000219431	0	0
SCCPDH	51097	broad.mit.edu	37	1	246887838	246887838	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:246887838C>T	ENST00000366510.3	+	1	490	c.114C>T	c.(112-114)tcC>tcT	p.S38S		NM_016002.2	NP_057086.2	Q8NBX0	SCPDH_HUMAN	saccharopine dehydrogenase (putative)	38				SSRLPWA -> TQPALG (in Ref. 1; AAD34044).		midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		AGCGGAGCTCCCGCCTGCCCT	0.736000													8	11					0	0	0.000274275	0	0
CD5L	922	broad.mit.edu	37	1	157805893	157805893	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:157805893C>T	ENST00000368174.4	-	3	204	c.108G>A	c.(106-108)cgG>cgA	p.R36R	CD5L_ENST00000484609.1_5'UTR	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	36	SRCR 1.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCACCTCCACCCGCCCTTCAC	0.632000													21	58					0	0	0.00152264	0	0
MARCO	8685	broad.mit.edu	37	2	119729107	119729107	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:119729107C>T	ENST00000541757.1	+	5	603	c.223C>T	c.(223-225)Cca>Tca	p.P75S	MARCO_ENST00000327097.4_Missense_Mutation_p.P153S			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	153					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						ACAAGGCGCCCCAGGTAGGTT	0.582000													15	60					0	0	0.000958276	0	0
CRB2	286204	broad.mit.edu	37	9	126125453	126125453	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr9:126125453C>T	ENST00000373631.3	+	2	405	c.404C>T	c.(403-405)cCc>cTc	p.P135L	CRB2_ENST00000359999.3_Missense_Mutation_p.P135L	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	135	EGF-like 2; calcium-binding (Potential).					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TGCCATTGCCCCCTTGGCTAT	0.622000													4	14					0	0	0.00024832	0	0
HSD17B12	51144	broad.mit.edu	37	11	43819886	43819886	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:43819886G>A	ENST00000278353.4	+	4	419	c.300G>A	c.(298-300)gtG>gtA	p.V100V	HSD17B12_ENST00000529261.1_3'UTR	NM_016142.2	NP_057226.1	Q53GQ0	DHB12_HUMAN	hydroxysteroid (17-beta) dehydrogenase 12	100					long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity			endometrium(2)|large_intestine(4)|lung(4)	10						AATTCAAAGTGGAGACAAGAA	0.363000													33	37					0	0	0.000339439	0	0
UNC13D	201294	broad.mit.edu	37	17	73827358	73827358	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:73827358G>A	ENST00000207549.4	-	26	2898	c.2519C>T	c.(2518-2520)tCc>tTc	p.S840F	UNC13D_ENST00000412096.2_Missense_Mutation_p.S840F	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	840	MHD2.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGAAGCCAGGGATGAGCTGCG	0.637000									Familial Hemophagocytic Lymphohistiocytosis				8	41					0	0	0.000442599	0	0
VAT1L	57687	broad.mit.edu	37	16	77918616	77918616	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr16:77918616C>T	ENST00000302536.2	+	7	1147	c.994C>T	c.(994-996)Cgg>Tgg	p.R332W		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	332							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						GGGCCTCATTCGGGGAGTGGT	0.512000													12	14					0	0	0.00136819	0	0
ZFP2	80108	broad.mit.edu	37	5	178358836	178358836	+	Silent	SNP	T	T	C			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr5:178358836T>C	ENST00000361362.2	+	5	1052	c.522T>C	c.(520-522)acT>acC	p.T174T	ZFP2_ENST00000520301.1_Silent_p.T174T|ZFP2_ENST00000523286.1_Silent_p.T174T|ZFP2_ENST00000503510.2_Silent_p.T174T	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		TGAATCTTACTGTCCATCAAC	0.403000													18	11					0	0	0.00152264	0	0
DAAM2	23500	broad.mit.edu	37	6	39847153	39847153	+	Missense_Mutation	SNP	C	C	T	rs150676991	by1000genomes	TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:39847153C>T	ENST00000538976.1	+	14	1927	c.1745C>T	c.(1744-1746)cCt>cTt	p.P582L	DAAM2_ENST00000398904.2_Missense_Mutation_p.P582L|DAAM2_ENST00000274867.4_Missense_Mutation_p.P582L	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	582	FH1.|Pro-rich.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CTGCCCCTCCCTCAGGACCCC	0.652000													4	26					0	0	0.000602214	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962567	69962567	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr4:69962567C>T	ENST00000305231.7	+	1	375	c.329C>T	c.(328-330)tCa>tTa	p.S110L	UGT2B7_ENST00000508661.1_Missense_Mutation_p.S110L|UGT2B7_ENST00000509763.1_Intron	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	110					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTATATTTTTCACAAGTACAG	0.303000													14	31					0	0	0.000219431	0	0
SERPINA1	5265	broad.mit.edu	37	14	94849309	94849309	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr14:94849309G>A	ENST00000448921.1	-	4	838	c.266C>T	c.(265-267)tCc>tTc	p.S89F	SERPINA1_ENST00000402629.1_Missense_Mutation_p.S89F|SERPINA1_ENST00000449399.3_Missense_Mutation_p.S89F|SERPINA1_ENST00000393088.4_Missense_Mutation_p.S89F|SERPINA1_ENST00000355814.4_Missense_Mutation_p.S89F|SERPINA1_ENST00000404814.4_Missense_Mutation_p.S89F|SERPINA1_ENST00000393087.4_Missense_Mutation_p.S89F|SERPINA1_ENST00000440909.1_Missense_Mutation_p.S89F|SERPINA1_ENST00000437397.1_Missense_Mutation_p.S89F	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	89					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	GGTCCCCAGGGAGAGCATTGC	0.547000													32	72					0	0	0.000953801	0	0
ELL2	22936	broad.mit.edu	37	5	95242469	95242469	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr5:95242469G>A	ENST00000237853.4	-	5	848	c.499C>T	c.(499-501)Cgg>Tgg	p.R167W	ELL2_ENST00000506628.1_5'UTR|ELL2_ENST00000431061.2_Intron	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	167					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		GGTGCTTTCCGAATTTGCACT	0.423000													34	32					0	0	0.000374591	0	0
PARP9	83666	broad.mit.edu	37	3	122259595	122259595	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:122259595C>T	ENST00000462315.1	-	8	1782	c.1489G>A	c.(1489-1491)Gca>Aca	p.A497T	PARP9_ENST00000360356.2_Missense_Mutation_p.A532T|PARP9_ENST00000471785.1_Missense_Mutation_p.A497T|PARP9_ENST00000477522.2_Missense_Mutation_p.A497T|PARP9_ENST00000492382.1_Missense_Mutation_p.A77T	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	532					cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	p.A532T(1)		endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		TGGATCCATGCGTGGGCCTCA	0.448000													26	84					0	0	0.00106085	0	0
CNOT1	23019	broad.mit.edu	37	16	58577803	58577803	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr16:58577803G>A	ENST00000317147.5	-	31	4474	c.4142C>T	c.(4141-4143)cCc>cTc	p.P1381L	CNOT1_ENST00000441024.2_Missense_Mutation_p.P1381L|CNOT1_ENST00000245138.4_Missense_Mutation_p.P232L|CNOT1_ENST00000569240.1_Missense_Mutation_p.P1376L	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1381					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CTGAAACAAGGGAATCTGGGG	0.458000													25	19					0	0	0.00106085	0	0
ENGASE	64772	broad.mit.edu	37	17	77082081	77082081	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:77082081C>T	ENST00000579016.1	+	14	1882	c.1882C>T	c.(1882-1884)Cgc>Tgc	p.R628C		NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	628						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						CTCTCACATCCGCTGGCAGCC	0.672000													9	31					0	0	0.000274275	0	0
KCNN1	3780	broad.mit.edu	37	19	18085944	18085944	+	RNA	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:18085944C>T	ENST00000601725.1	+	0	81																											ATCAGCCTCTCCACGGCCATC	0.597000													7	44					0	0	0.000274275	0	0
MBL2	4153	broad.mit.edu	37	10	54528199	54528199	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:54528199C>T	ENST00000373968.3	-	4	509	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K	MBL2_ENST00000493043.1_5'UTR	NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	149	C-type lectin.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						TTCACTTTTTCAAAGGTCATT	0.473000													28	79					0	0	0.00106085	0	0
GCFC2	6936	broad.mit.edu	37	2	75929487	75929487	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:75929487G>A	ENST00000321027.3	-	3	590	c.457C>T	c.(457-459)Caa>Taa	p.Q153*	GCFC2_ENST00000470503.1_Nonsense_Mutation_p.Q153*|GCFC2_ENST00000541687.1_Nonsense_Mutation_p.Q153*|GCFC2_ENST00000409857.3_Nonsense_Mutation_p.Q153*	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCF_HUMAN	GC-rich sequence DNA-binding factor 2	153					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity										TAGTCATCTTGGGCCCTGGCC	0.458000													28	37					0	0	0.000878237	0	0
IRX1	79192	broad.mit.edu	37	5	3599467	3599467	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr5:3599467C>T	ENST00000302006.3	+	2	457	c.405C>T	c.(403-405)acC>acT	p.T135T	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	135						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AGAACGCCACCCGCGAGAGCA	0.652000													16	24					0	0	0.000566183	0	0
PIGU	128869	broad.mit.edu	37	20	33162970	33162970	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr20:33162970A>G	ENST00000374820.2	-	10	1092	c.1072T>C	c.(1072-1074)Tat>Cat	p.Y358H	PIGU_ENST00000452740.2_Missense_Mutation_p.Y378H			Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class U	378					attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						CTTCCTGCATAAATCCAGAGG	0.507000													33	68					0	0	0.000339439	0	0
PSEN1	5663	broad.mit.edu	37	14	73685906	73685906	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr14:73685906C>T	ENST00000324501.5	+	12	1585	c.1313C>T	c.(1312-1314)tCc>tTc	p.S438F	PSEN1_ENST00000261970.3_Missense_Mutation_p.S380F|PSEN1_ENST00000344094.3_3'UTR|PSEN1_ENST00000557511.1_Missense_Mutation_p.S380F|PSEN1_ENST00000406768.1_Missense_Mutation_p.S346F|PSEN1_ENST00000394164.1_Missense_Mutation_p.S434F|PSEN1_ENST00000357710.4_Missense_Mutation_p.S434F	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	438	Required for interaction with CTNNB1.				amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		CTTCCAATCTCCATCACCTTT	0.393000													89	151					0	0	0.000781405	0	0
PDE2A	5138	broad.mit.edu	37	11	72292005	72292005	+	Silent	SNP	G	G	A	rs146299609	byFrequency	TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:72292005G>A	ENST00000334456.5	-	24	2303	c.2058C>T	c.(2056-2058)atC>atT	p.I686I	PDE2A_ENST00000444035.2_Silent_p.I677I|PDE2A_ENST00000418754.2_Silent_p.I571I|PDE2A_ENST00000376450.3_Silent_p.I430I|PDE2A_ENST00000540345.1_Silent_p.I677I|PDE2A_ENST00000544570.1_Silent_p.I679I	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	686	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	ACAAGGCAAAGATCTCGATGT	0.512000													36	143					0	0	0.00148497	0	0
UBBP4	23666	broad.mit.edu	37	17	21730947	21730947	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:21730947C>T	ENST00000584755.1	+	2	646	c.249C>T	c.(247-249)acC>acT	p.T83T	UBBP4_ENST00000578713.1_Silent_p.T83T|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						TCGTGAAGACCCTGACCGGCA	0.552000													8	33					0	0	0.000151284	0	0
NTRK1	4914	broad.mit.edu	37	1	156843583	156843583	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:156843583G>A	ENST00000368196.3	+	8	1129	c.1009G>A	c.(1009-1011)Gcc>Acc	p.A337T	NTRK1_ENST00000524377.1_Missense_Mutation_p.A337T|NTRK1_ENST00000358660.3_Missense_Mutation_p.A337T|NTRK1_ENST00000392302.2_Missense_Mutation_p.A307T	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	337	Ig-like C2-type 2.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	GGAGCCGGCAGCCAATGAGAC	0.632000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			9	11					0	0	0.00136819	0	0
MYH3	4621	broad.mit.edu	37	17	10532921	10532921	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:10532921G>A	ENST00000583535.1	-	40	5876	c.5789C>T	c.(5788-5790)tCc>tTc	p.S1930F	MYH3_ENST00000226209.7_Missense_Mutation_p.S1930F	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1930					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CACCCTGCTGGAGGTGAAGTC	0.562000													19	55					0	0	0.000229342	0	0
C22orf29	79680	broad.mit.edu	37	22	19838874	19838874	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr22:19838874G>A	ENST00000405640.1	-	2	1579	c.911C>T	c.(910-912)tCg>tTg	p.S304L	C22orf29_ENST00000407472.1_Missense_Mutation_p.S304L|C22orf29_ENST00000484072.1_Intron|GNB1L_ENST00000460402.1_Intron|GNB1L_ENST00000329517.6_Intron|C22orf29_ENST00000328554.4_Missense_Mutation_p.S304L|GNB1L_ENST00000403325.1_Intron|GNB1L_ENST00000405009.1_Intron			Q7L3V2	CV029_HUMAN	chromosome 22 open reading frame 29	304	Pro-rich.									NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					AGCTGACTCCGACAGTCTAGG	0.587000													15	39					0	0	0.000308642	0	0
CSMD2	114784	broad.mit.edu	37	1	34087804	34087804	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:34087804G>A	ENST00000373381.4	-	37	5966	c.5790C>T	c.(5788-5790)atC>atT	p.I1930I	CSMD2_ENST00000373380.1_Silent_p.I803I|CSMD2_ENST00000373377.1_Silent_p.I29I|CSMD2_ENST00000373388.2_Silent_p.I29I	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1890	Sushi 11.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CAGATACGCTGATATCTGAGT	0.517000													58	51					0	0	0.000781405	0	0
CNKSR2	22866	broad.mit.edu	37	X	21613508	21613508	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chrX:21613508G>A	ENST00000425654.2	+	16	2361	c.1881G>A	c.(1879-1881)atG>atA	p.M627I	CNKSR2_ENST00000543067.1_Missense_Mutation_p.M608I|CNKSR2_ENST00000279451.4_Missense_Mutation_p.M657I|CNKSR2_ENST00000379510.3_Missense_Mutation_p.M657I	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	657	PH.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						TTGATGATATGAACAGGTAAA	0.323000													32	12					0	0	0.000491102	0	0
CRISPLD2	83716	broad.mit.edu	37	16	84902464	84902464	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr16:84902464C>T	ENST00000262424.5	+	8	1085	c.861C>T	c.(859-861)gtC>gtT	p.V287V	CRISPLD2_ENST00000564567.1_Silent_p.V287V|CRISPLD2_ENST00000567845.1_Silent_p.V286V	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	287	LCCL 1.					extracellular region|transport vesicle				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						TAGCCCAAGTCGTCAGATGTG	0.547000													6	39					0	0	8.12818e-05	0	0
DHRS9	10170	broad.mit.edu	37	2	169938402	169938402	+	Translation_Start_Site	SNP	A	A	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:169938402A>T	ENST00000421653.1	+	0	395				DHRS9_ENST00000602501.1_Missense_Mutation_p.K104I|DHRS9_ENST00000357546.2_Missense_Mutation_p.K104I|DHRS9_ENST00000432060.2_Missense_Mutation_p.K164I|DHRS9_ENST00000412271.1_Missense_Mutation_p.K104I|DHRS9_ENST00000428522.1_Missense_Mutation_p.K104I|DHRS9_ENST00000436483.2_Missense_Mutation_p.K104I|DHRS9_ENST00000327239.4_Missense_Mutation_p.K104I			Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9						9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GTTGGGGAGAAAGGTGAGAGA	0.488000													10	14					0	0	0.000978159	0	0
ANPEP	290	broad.mit.edu	37	15	90328627	90328627	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr15:90328627C>T	ENST00000300060.6	-	21	3170	c.2857G>A	c.(2857-2859)Gag>Aag	p.E953K		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	953	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	TCCTTGTTCTCCTTCACCCAC	0.572000													16	108					0	0	0.00074312	0	0
COL21A1	81578	broad.mit.edu	37	6	56044434	56044434	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:56044434C>T	ENST00000244728.5	-	3	979	c.582G>A	c.(580-582)gtG>gtA	p.V194V	COL21A1_ENST00000535941.1_Silent_p.V194V|COL21A1_ENST00000370819.1_Silent_p.V194V	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	194	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TATAGTCTTCCACATAAAACA	0.343000													10	38					0	0	0.000442599	0	0
STARD13	90627	broad.mit.edu	37	13	33700324	33700324	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr13:33700324G>A	ENST00000336934.5	-	7	2092	c.1976C>T	c.(1975-1977)gCt>gTt	p.A659V	STARD13_ENST00000255486.4_Missense_Mutation_p.A651V|STARD13_ENST00000399365.3_Missense_Mutation_p.A541V	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	659					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GCCAAAGACAGCCTTGTCTTT	0.493000													70	84					0	0	0.000781405	0	0
ZRANB3	84083	broad.mit.edu	37	2	135982014	135982014	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:135982014C>T	ENST00000401392.1	-	15	2438	c.2226G>A	c.(2224-2226)cgG>cgA	p.R742R	ZRANB3_ENST00000264159.6_Silent_p.R744R|ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000536680.1_Silent_p.R742R			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	744						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		AGATGTGAATCCGGTCAGTAT	0.358000													14	38					0	0	0.000422831	0	0
CA5A	763	broad.mit.edu	37	16	87938439	87938439	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr16:87938439C>T	ENST00000309893.2	-	3	477	c.412G>A	c.(412-414)Gag>Aag	p.E138K		NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN	carbonic anhydrase VA, mitochondrial	138					one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding			large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)		GAGCCCCCCTCGTTCACTGCT	0.547000													15	50					0	0	0.000308642	0	0
SOAT1	6646	broad.mit.edu	37	1	179316752	179316752	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:179316752C>T	ENST00000367619.3	+	12	1278	c.1135C>T	c.(1135-1137)Ctt>Ttt	p.L379F	SOAT1_ENST00000539888.1_Missense_Mutation_p.L314F|SOAT1_ENST00000535686.1_Missense_Mutation_p.L115F|SOAT1_ENST00000540564.1_Missense_Mutation_p.L321F	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	379					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	GATTCTCTTCCTTACTTTTTT	0.333000													42	55					0	0	0.000509022	0	0
TRAF1	7185	broad.mit.edu	37	9	123675942	123675942	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr9:123675942C>T	ENST00000373887.3	-	5	2814	c.369G>A	c.(367-369)atG>atA	p.M123I	TRAF1_ENST00000540010.1_Missense_Mutation_p.M123I|TRAF1_ENST00000546084.1_Start_Codon_SNP_p.M1I	NM_005658.4	NP_005649.1	Q13077	TRAF1_HUMAN	TNF receptor-associated factor 1	123					apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						TCCACTGTTTCATGAACCCCA	0.612000													22	25					0	0	0.000295444	0	0
BTAF1	9044	broad.mit.edu	37	10	93740304	93740304	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:93740304C>T	ENST00000265990.6	+	15	2052	c.1744C>T	c.(1744-1746)Ctt>Ttt	p.L582F	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	582					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				AATTCTGGACCTTATTCACAA	0.353000													16	38					0	0	0.000566183	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457651	110457651	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr8:110457651C>T	ENST00000378402.5	+	38	5657	c.5553C>T	c.(5551-5553)atC>atT	p.I1851I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1851	IPT/TIG 11.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CACTGGTGATCACAGGAAATG	0.488000										HNSCC(38;0.096)			8	23					0	0	0.000442599	0	0
ABCC8	6833	broad.mit.edu	37	11	17452441	17452441	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:17452441G>A	ENST00000302539.4	-	12	1862	c.1737C>T	c.(1735-1737)tcC>tcT	p.S579S	ABCC8_ENST00000528202.1_5'UTR|ABCC8_ENST00000389817.3_Silent_p.S579S	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	579	ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AGAGGGAGAGGGAGGCAAAGG	0.607000													91	348					0	0	0.000781405	0	0
ELP4	26610	broad.mit.edu	37	11	31531334	31531334	+	Translation_Start_Site	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:31531334G>A	ENST00000395934.2	+	1	10	c.3G>A	c.(1-3)atG>atA	p.M1I	ELP4_ENST00000379163.5_Start_Codon_SNP_p.M1I|ELP4_ENST00000350638.5_Start_Codon_SNP_p.M1I			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	1					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					GCTCTAAGATGGCGGCAGTGG	0.592000													6	33					0	0	0.00116845	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12888042	12888042	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:12888042C>T	ENST00000379672.5	+	20	2434	c.2134C>T	c.(2134-2136)Ccc>Tcc	p.P712S	ARHGAP44_ENST00000340825.3_Missense_Mutation_p.P706S|ARHGAP44_ENST00000262444.9_Missense_Mutation_p.P712S	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	712					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						TGCAGCTCCTCCCCTGGCCTC	0.647000													12	12					0	0	0.00136819	0	0
SLC32A1	140679	broad.mit.edu	37	20	37356631	37356631	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr20:37356631C>T	ENST00000217420.1	+	2	1190	c.927C>T	c.(925-927)tcC>tcT	p.S309S		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	309					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TCCCCATCTCCATTGGCATCA	0.537000													18	45					0	0	0.00121646	0	0
PHC2	1912	broad.mit.edu	37	1	33797949	33797949	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:33797949G>A	ENST00000257118.5	-	10	1868	c.1815C>T	c.(1813-1815)ttC>ttT	p.F605F	PHC2_ENST00000431992.1_Silent_p.F576F|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000373416.1_Silent_p.F70F|PHC2_ENST00000373418.3_Silent_p.F70F|PHC2_ENST00000419414.2_Silent_p.F606F|PHC2_ENST00000373422.3_Silent_p.F211F	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	605					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TCTCAGGCAGGAACCCCTGTG	0.582000													39	50					0	0	0.00148497	0	0
SLC22A9	114571	broad.mit.edu	37	11	63143144	63143144	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:63143144C>T	ENST00000310969.4	+	4	971	c.703C>T	c.(703-705)Cat>Tat	p.H235Y	SLC22A9_ENST00000279178.3_Silent_p.L286L			Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	0					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CTCGGTGGCTCATTATCAACA	0.448000													9	49					0	0	0.000274275	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130342971	130342971	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:130342971C>T	ENST00000299164.2	+	8	2108	c.2108C>T	c.(2107-2109)cCc>cTc	p.P703L		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	703	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GTGGCCATCCCCGCAGGCGCC	0.592000													15	54					0	0	0.000422831	0	0
RP1L1	94137	broad.mit.edu	37	8	10469143	10469143	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr8:10469143C>T	ENST00000382483.3	-	4	2688	c.2465G>A	c.(2464-2466)cGa>cAa	p.R822Q		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	822					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCAGTGGCTTCGGTGGGGGCC	0.701000													14	21					0	0	0.000219431	0	0
PLA2R1	22925	broad.mit.edu	37	2	160798644	160798644	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:160798644C>T	ENST00000283243.7	-	29	4377	c.4171G>A	c.(4171-4173)Gaa>Aaa	p.E1391K	PLA2R1_ENST00000460710.1_5'UTR	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1391					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GTACCTTTTTCTGGCAGCGCC	0.308000													20	45					0	0	0.000586117	0	0
EPHA3	2042	broad.mit.edu	37	3	89390106	89390106	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:89390106G>A	ENST00000336596.2	+	4	1080	c.855G>A	c.(853-855)atG>atA	p.M285I	EPHA3_ENST00000452448.2_Missense_Mutation_p.M285I|EPHA3_ENST00000494014.1_Missense_Mutation_p.M285I	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	285	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ATGGTAATATGAAGTGTGCTA	0.393000										TSP Lung(6;0.00050)			22	83					0	0	0.00047179	0	0
CSMD1	64478	broad.mit.edu	37	8	2823369	2823369	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr8:2823369C>T	ENST00000520002.1	-	60	9766	c.9211G>A	c.(9211-9213)Gaa>Aaa	p.E3071K	CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000602557.1_Missense_Mutation_p.E3071K|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000537824.1_Missense_Mutation_p.E3070K|CSMD1_ENST00000400186.3_Intron			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3071	Sushi 24.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTGACTGCTTCCATGACATAG	0.493000													6	11					0	0	0.000274275	0	0
MUC16	94025	broad.mit.edu	37	19	9061972	9061972	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:9061972C>T	ENST00000397910.4	-	3	25677	c.25474G>A	c.(25474-25476)Gaa>Aaa	p.E8492K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8494	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			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						ATGGCACTTTCTGCTGATTCT	0.498000													43	118					0	0	0.000589545	0	0
IGKV1D-16	28901	broad.mit.edu	37	2	90139107	90139107	+	RNA	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:90139107G>A	ENST00000492446.1	+	0	30																											GACACAGCATGGACATGAGGG	0.537000													19	136					0	0	0.00152264	0	0
SNX29	92017	broad.mit.edu	37	16	12618696	12618696	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr16:12618696C>T	ENST00000566228.1	+	20	2385	c.2316C>T	c.(2314-2316)ttC>ttT	p.F772F	SNX29_ENST00000323433.4_Silent_p.F387F|SNX29_ENST00000306030.3_Silent_p.F387F	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	387					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						TGCCCTTCTTCGTGTAAGTAC	0.572000													17	75					0	0	0.000422831	0	0
GRIN3A	116443	broad.mit.edu	37	9	104448967	104448967	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr9:104448967C>T	ENST00000361820.3	-	2	1815	c.1215G>A	c.(1213-1215)atG>atA	p.M405I		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	405					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CTGGTTGGATCATGGTGGCTG	0.463000													53	20					0	0	0.000781405	0	0
PIPOX	51268	broad.mit.edu	37	17	27383231	27383231	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:27383231C>T	ENST00000323372.4	+	8	1407	c.1081C>T	c.(1081-1083)Ctg>Ttg	p.L361L	PIPOX_ENST00000583215.1_3'UTR	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	361					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	GGGGAAGATCCTGTATGAATT	0.522000													18	46					0	0	0.000958276	0	0
PKD1L2	114780	broad.mit.edu	37	16	81183453	81183453	+	RNA	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr16:81183453C>T	ENST00000533478.1	-	0	2650				PKD1L2_ENST00000525539.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCAGATGTGTCCATCCTGGAA	0.592000													6	24					0	0	8.12818e-05	0	0
ZNF417	147687	broad.mit.edu	37	19	58420358	58420358	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:58420358G>A	ENST00000312026.5	-	3	1452	c.1288C>T	c.(1288-1290)Cac>Tac	p.H430Y	ZNF417_ENST00000595559.1_Missense_Mutation_p.H429Y|ZNF417_ENST00000536263.1_Missense_Mutation_p.H231Y|CTD-2583A14.9_ENST00000602124.1_Intron	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	430					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		TCCCCAGTGTGAAGTCTCTGG	0.448000													14	33					0	0	0.000566183	0	0
DPEP2	64174	broad.mit.edu	37	16	68021586	68021586	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr16:68021586G>A	ENST00000412757.2	-	12	1949	c.1284C>T	c.(1282-1284)tcC>tcT	p.S428S	DPEP2_ENST00000393847.1_Silent_p.S428S|DPEP2_ENST00000572888.1_Silent_p.S428S			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	428					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		GTGAGAGGTCGGAGTGGCAGG	0.547000													28	37					0	0	0.00178596	0	0
ZFHX4	79776	broad.mit.edu	37	8	77768012	77768012	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr8:77768012G>A	ENST00000521891.2	+	10	9303	c.8855G>A	c.(8854-8856)cGa>cAa	p.R2952Q	ZFHX4_ENST00000050961.6_Missense_Mutation_p.R2907Q|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R2907Q|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R2926Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2907						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R2936Q(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGTGACTACCGAACTCCAACC	0.448000										HNSCC(33;0.089)			8	46					0	0	0.000442599	0	0
DIP2C	22982	broad.mit.edu	37	10	409149	409149	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:409149G>A	ENST00000280886.6	-	21	2667	c.2580C>T	c.(2578-2580)agC>agT	p.S860S	DIP2C_ENST00000540204.1_Silent_p.S181S|DIP2C_ENST00000381496.3_3'UTR	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	860						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GCAGCACACGGCTCATCCACT	0.587000													4	9					0	0	0.000602214	0	0
NLRP12	91662	broad.mit.edu	37	19	54314203	54314203	+	Missense_Mutation	SNP	C	C	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:54314203C>A	ENST00000324134.6	-	3	878	c.710G>T	c.(709-711)gGg>gTg	p.G237V	NLRP12_ENST00000535162.1_Missense_Mutation_p.G237V|NLRP12_ENST00000391773.1_Missense_Mutation_p.G237V|NLRP12_ENST00000391772.1_Missense_Mutation_p.G237V|NLRP12_ENST00000391775.3_Missense_Mutation_p.G237V|NLRP12_ENST00000351894.4_Missense_Mutation_p.G237V|NLRP12_ENST00000345770.5_Missense_Mutation_p.G237V|NLRP12_ENST00000354278.3_Missense_Mutation_p.G237V	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	237	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GAAGAGCTTCCCGTCCGCCCA	0.582000													12	28					5.50884e-06	3.11092e-05	0.00136819	1	0
KCNC2	3747	broad.mit.edu	37	12	75444313	75444313	+	Missense_Mutation	SNP	C	C	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:75444313C>A	ENST00000549446.1	-	3	2152	c.1472G>T	c.(1471-1473)aGg>aTg	p.R491M	KCNC2_ENST00000393288.2_Missense_Mutation_p.R491M|KCNC2_ENST00000550433.1_Missense_Mutation_p.R491M|KCNC2_ENST00000341669.3_Missense_Mutation_p.R491M|KCNC2_ENST00000298972.1_Missense_Mutation_p.R491M|KCNC2_ENST00000540018.1_Missense_Mutation_p.R491M|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000350228.2_Missense_Mutation_p.R491M|KCNC2_ENST00000548513.1_Missense_Mutation_p.R491M	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	491					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						CTTTCTTTTCCTTGGAAGTTT	0.453000													14	68					1.5842e-08	9.01567e-08	0.000151284	1	0
FAM193A	8603	broad.mit.edu	37	4	2701826	2701826	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr4:2701826C>T	ENST00000324666.5	+	17	3405	c.3054C>T	c.(3052-3054)ctC>ctT	p.L1018L	FAM193A_ENST00000545951.1_Silent_p.L1018L|FAM193A_ENST00000502458.1_Silent_p.L1040L|FAM193A_ENST00000382839.3_Silent_p.L1018L|FAM193A_ENST00000505311.1_Silent_p.L1018L	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	1018										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						AATTTCTCCTCCCCAAGGAGG	0.547000													32	41					0	0	0.000409698	0	0
FYB	2533	broad.mit.edu	37	5	39203057	39203057	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr5:39203057C>T	ENST00000351578.6	-	2	196	c.6G>A	c.(4-6)gcG>gcA	p.A2A	FYB_ENST00000515010.1_Silent_p.A2A|FYB_ENST00000512982.1_Silent_p.A2A|FYB_ENST00000505428.1_Silent_p.A2A|FYB_ENST00000540520.1_Silent_p.A12A	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	2					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGTTATATTTCGCCATGAGGG	0.433000													22	56					0	0	0.000878237	0	0
EVI5L	115704	broad.mit.edu	37	19	7913942	7913942	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:7913942C>T	ENST00000270530.4	+	4	659	c.463C>T	c.(463-465)Cgc>Tgc	p.R155C	EVI5L_ENST00000538904.2_Missense_Mutation_p.R155C	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	155	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						GAAGCTGATCCGCAGGGACAT	0.617000													7	7					0	0	8.12818e-05	0	0
IL36RN	26525	broad.mit.edu	37	2	113819753	113819753	+	Silent	SNP	C	C	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:113819753C>A	ENST00000393200.2	+	4	329	c.168C>A	c.(166-168)ccC>ccA	p.P56P	IL36RN_ENST00000346807.3_Silent_p.P56P	NM_012275.2	NP_036407.1	Q9UBH0	I36RA_HUMAN	interleukin 36 receptor antagonist	56						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GCCTGTCCCCCGTCATCCTGG	0.617000													5	45					0.00116845	0.00648841	0.00116845	1	0
BRINP2	57795	broad.mit.edu	37	1	177226401	177226401	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:177226401G>A	ENST00000361539.4	+	4	862	c.550G>A	c.(550-552)Ggg>Agg	p.G184R	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		184						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CGGGGGCAGTGGGAACAGCAC	0.552000													26	38					0	0	0.00106085	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947403	57947403	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:57947403G>A	ENST00000335397.3	+	3	803	c.487G>A	c.(487-489)Gcc>Acc	p.A163T		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				GACAGTCTCAGCCTTCACTCT	0.522000													17	21					0	0	0.000422831	0	0
ENG	2022	broad.mit.edu	37	9	130587562	130587562	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr9:130587562C>T	ENST00000344849.3	-	6	1044	c.764G>A	c.(763-765)gGt>gAt	p.G255D	ENG_ENST00000373203.4_Missense_Mutation_p.G255D			P17813	EGLN_HUMAN	endoglin	255					artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						GTAGGGGGGACCCTGCAGGAT	0.632000									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia				15	14					0	0	0.000566183	0	0
ICAM5	7087	broad.mit.edu	37	19	10405083	10405083	+	Missense_Mutation	SNP	C	C	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:10405083C>A	ENST00000221980.4	+	9	2060	c.1997C>A	c.(1996-1998)cCg>cAg	p.P666Q		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	666	Ig-like C2-type 8.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GCAGCGCCACCGGAGATGGAT	0.692000													6	47					3.59834e-05	0.000202579	0.00116845	1	0
EPHA6	285220	broad.mit.edu	37	3	96706372	96706372	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:96706372G>A	ENST00000389672.5	+	3	687	c.649G>A	c.(649-651)Gaa>Aaa	p.E217K	EPHA6_ENST00000542517.1_Missense_Mutation_p.E123K|EPHA6_ENST00000470610.2_Missense_Mutation_p.E217K	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	122						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GACTTGCAAAGAAACATTTAA	0.398000													24	73					0	0	0.000295444	0	0
C11orf70	85016	broad.mit.edu	37	11	101946721	101946721	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:101946721G>A	ENST00000434758.2	+	5	581	c.553G>A	c.(553-555)Gat>Aat	p.D185N	C11orf70_ENST00000534360.1_3'UTR|C11orf70_ENST00000526781.1_Missense_Mutation_p.D185N	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	185										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		TCAATATGAGGATGTGATTAG	0.358000													34	54					0	0	0.000692331	0	0
ZSCAN23	222696	broad.mit.edu	37	6	28403789	28403789	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:28403789C>T	ENST00000289788.4	-	2	400	c.255G>A	c.(253-255)gaG>gaA	p.E85E	ZSCAN23_ENST00000486481.1_Intron	NM_001012455.1	NP_001012458.1	Q3MJ62	ZSC23_HUMAN	zinc finger and SCAN domain containing 23	85	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|prostate(1)|stomach(2)	4						CTAGGATCTGCTCCTTGGTGT	0.607000													6	31					0	0	0.000442599	0	0
ZNF835	90485	broad.mit.edu	37	19	57175219	57175219	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:57175219C>T	ENST00000537055.2	-	2	1579	c.1348G>A	c.(1348-1350)Gag>Aag	p.E450K		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TTGCCGCACTCGGGGCAGGTG	0.677000													8	26					0	0	0.000274275	0	0
GLYATL1	92292	broad.mit.edu	37	11	58714580	58714580	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:58714580C>T	ENST00000317391.4	+	4	360	c.20C>T	c.(19-21)tCc>tTc	p.S7F	GLYATL1_ENST00000300079.5_Intron|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	7						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	CTGAATAACTCCCATAAGCTG	0.473000													12	43					0	0	0.000151284	0	0
ABAT	18	broad.mit.edu	37	16	8829605	8829605	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr16:8829605C>T	ENST00000396600.2	+	2	947	c.9C>T	c.(7-9)tcC>tcT	p.S3S	ABAT_ENST00000268251.8_Silent_p.S3S|ABAT_ENST00000569156.1_Silent_p.S3S|ABAT_ENST00000567812.1_Silent_p.S18S|ABAT_ENST00000425191.2_Silent_p.S3S	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	3					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	TCATGGCCTCCATGTTGCTCG	0.592000													4	9					0	0	0.00116845	0	0
NMBR	4829	broad.mit.edu	37	6	142409749	142409749	+	Missense_Mutation	SNP	T	T	G			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:142409749T>G	ENST00000258042.1	-	1	187	c.47A>C	c.(46-48)aAt>aCt	p.N16T	RP11-137J7.2_ENST00000454401.1_RNA	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	16					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		ACCGCTCTCATTCGCGCCGGT	0.622000													6	15					0	0	0.000157383	0	0
GABRG2	2566	broad.mit.edu	37	5	161569245	161569245	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr5:161569245C>T	ENST00000356592.3	+	7	1305	c.845C>T	c.(844-846)cCc>cTc	p.P282L	GABRG2_ENST00000361925.4_Missense_Mutation_p.P282L|GABRG2_ENST00000393933.4_Missense_Mutation_p.P187L|GABRG2_ENST00000414552.2_Missense_Mutation_p.P322L	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	282					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		ACCTATATCCCCTGCACACTC	0.438000													63	41					0	0	0.000781405	0	0
PRKG1	5592	broad.mit.edu	37	10	54041970	54041970	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:54041970G>A	ENST00000373980.4	+	14	2020	c.1603G>A	c.(1603-1605)Ggg>Agg	p.G535R	PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000373985.1_Missense_Mutation_p.G508R|PRKG1_ENST00000401604.2_Missense_Mutation_p.G520R|PRKG1_ENST00000373975.2_Missense_Mutation_p.G238R|PRKG1-AS1_ENST00000426785.2_RNA	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	520	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		GACTTTTTGTGGGACTCCAGA	0.403000													19	37					0	0	0.000958276	0	0
ZNF679	168417	broad.mit.edu	37	7	63726529	63726529	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:63726529G>A	ENST00000421025.1	+	5	787	c.518G>A	c.(517-519)aGa>aAa	p.R173K	ZNF679_ENST00000255746.4_Missense_Mutation_p.R173K	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	173					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						AATTCCAATAGACATAAGACA	0.303000													5	6					0	0	0.000602214	0	0
WISP1	8840	broad.mit.edu	37	8	134239797	134239797	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr8:134239797G>A	ENST00000250160.6	+	5	1054	c.948G>A	c.(946-948)aaG>aaA	p.K316K	WISP1_ENST00000519433.1_Silent_p.K71K|WISP1_ENST00000377863.2_Silent_p.K144K|WISP1_ENST00000517423.1_3'UTR|WISP1_ENST00000220856.6_Silent_p.K229K	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	316	CTCK.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			ACAAGTCTAAGACTATCGACG	0.517000													37	52					0	0	0.000374591	0	0
LRRK2	120892	broad.mit.edu	37	12	40704392	40704392	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:40704392G>A	ENST00000298910.7	+	31	4535	c.4477G>A	c.(4477-4479)Gaa>Aaa	p.E1493K		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1493	Roc.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TGCCACCGAGGAATCTGATGC	0.428000													72	222					0	0	0.000781405	0	0
SIRPB2	284759	broad.mit.edu	37	20	1460549	1460549	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr20:1460549C>T	ENST00000359801.3	-	2	283	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	SIRPB2_ENST00000444444.1_Intron|SIRPB2_ENST00000381630.1_Intron|SIRPB2_ENST00000537284.1_Intron	NM_001122962.1	NP_001116434.1	Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2	83	Ig-like V-type 1.					integral to membrane				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTATAAATTTCCTGTTGGTCC	0.463000													24	56					0	0	0.000375601	0	0
ROS1	6098	broad.mit.edu	37	6	117662729	117662729	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:117662729C>T	ENST00000368508.3	-	29	4934	c.4736G>A	c.(4735-4737)aGa>aAa	p.R1579K	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.R1573K	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1579	Fibronectin type-III 7.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GTGAGATTCTCTCCAAGATAT	0.428000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								13	29					0	0	0.000219431	0	0
MYH8	4626	broad.mit.edu	37	17	10304912	10304912	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:10304912A>G	ENST00000403437.2	-	23	2973	c.2879T>C	c.(2878-2880)cTt>cCt	p.L960P	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	960					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGTCAGCTCAAGGTCATCAAT	0.443000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				108	187					0	0	0.000781405	0	0
NDUFB5	4711	broad.mit.edu	37	3	179341806	179341806	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:179341806C>T	ENST00000493866.1	+	4	417	c.392C>T	c.(391-393)cCg>cTg	p.P131L	NDUFB5_ENST00000473500.1_3'UTR|NDUFB5_ENST00000259037.3_Missense_Mutation_p.P183L|NDUFB5_ENST00000472629.1_Missense_Mutation_p.P171L	NM_001199957.1	NP_001186886.1	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa	183					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|lung(6)|skin(1)	8	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		NADH(DB00157)	GATCATTCTCCGAAAGCAACT	0.333000													14	29					0	0	0.000308642	0	0
IGHJ2	28481	broad.mit.edu	37	14	106331449	106331449	+	RNA	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr14:106331449G>A	ENST00000390564.2	-	0	11																											CCCAGAGATCGAAGTACCAGT	0.612000													9	9					0	0	0.000978159	0	0
PRKCG	5582	broad.mit.edu	37	19	54403571	54403571	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:54403571C>T	ENST00000263431.3	+	12	1648	c.1366C>T	c.(1366-1368)Cat>Tat	p.H456Y	PRKCG_ENST00000540413.1_Missense_Mutation_p.H456Y|PRKCG_ENST00000542049.1_Missense_Mutation_p.H343Y	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	456	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		TAAGGAGCCCCATGCAGCGTG	0.592000													8	22					0	0	0.000157383	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995196	140995196	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chrX:140995196G>A	ENST00000285879.4	+	4	2292	c.2006G>A	c.(2005-2007)gGg>gAg	p.G669E	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	669							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCCTGAGGGGATGCACTCC	0.572000										HNSCC(15;0.026)			62	20					0	0	0.000781405	0	0
SI	6476	broad.mit.edu	37	3	164733006	164733006	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:164733006C>T	ENST00000264382.3	-	33	3966	c.3904G>A	c.(3904-3906)Gga>Aga	p.G1302R		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1302	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTTTCATTTCCTGAAATTGCT	0.348000										HNSCC(35;0.089)			6	21					0	0	8.12818e-05	0	0
DEFB115	245929	broad.mit.edu	37	20	29847269	29847269	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr20:29847269G>A	ENST00000400552.1	+	2	101	c.101G>A	c.(100-102)tGg>tAg	p.W34*		NM_001037730.1	NP_001032819.1	Q30KQ5	DB115_HUMAN	defensin, beta 115	34					defense response to bacterium	extracellular region				kidney(1)|lung(3)|ovary(1)|skin(1)	6			Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347)			ATAGATGGATGGATCAGAAGG	0.313000													11	56					0	0	0.000151284	0	0
PCDH15	65217	broad.mit.edu	37	10	55582729	55582729	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:55582729C>T	ENST00000361849.3	-	34	5157	c.4763G>A	c.(4762-4764)aGg>aAg	p.R1588K	PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.R1563K|PCDH15_ENST00000395432.2_Missense_Mutation_p.R1546K|PCDH15_ENST00000437009.1_Missense_Mutation_p.R1517K|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.R1586K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.R1583K|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000463095.1_5'UTR	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1586					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGGAACTTTCCTCATCAGCCT	0.463000										HNSCC(58;0.16)			18	46					0	0	0.000295444	0	0
TERT	7015	broad.mit.edu	37	5	1293435	1293435	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr5:1293435C>T	ENST00000310581.5	-	2	1623	c.1566G>A	c.(1564-1566)agG>agA	p.R522R	TERT_ENST00000296820.5_Silent_p.R522R|TERT_ENST00000508104.2_Silent_p.R522R|TERT_ENST00000334602.6_Silent_p.R522R	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	522	RNA-interacting domain 2.|Required for oligomerization.		R -> K (associated with acute myeloid leukemia).		anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CACCTGGGCTCCTGCGCAGCC	0.642000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				11	44					0	0	0.000978159	0	0
LLGL1	3996	broad.mit.edu	37	17	18140988	18140988	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:18140988C>T	ENST00000316843.4	+	14	1901	c.1805C>T	c.(1804-1806)aCc>aTc	p.T602I		NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	602					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GCTGCTGTAACCGCTGTCACA	0.672000													12	22					0	0	0.000978159	0	0
IGHV3-13	28449	broad.mit.edu	37	14	106586249	106586249	+	RNA	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr14:106586249G>A	ENST00000390602.2	-	0	315																											CACGGAGCCTGGATAGTATGT	0.517000													27	50					0	0	0.00106085	0	0
F8	2157	broad.mit.edu	37	X	154157677	154157677	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chrX:154157677G>A	ENST00000360256.4	-	14	4588	c.4388C>T	c.(4387-4389)tCt>tTt	p.S1463F		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1463	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AATGGCTAAAGAAAGGTTATT	0.418000													34	7					0	0	0.000953801	0	0
CHIT1	1118	broad.mit.edu	37	1	203192347	203192347	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:203192347C>T	ENST00000367229.1	-	6	555	c.521G>A	c.(520-522)gGg>gAg	p.G174E	CHIT1_ENST00000484834.1_Intron|CHIT1_ENST00000535569.1_Missense_Mutation_p.G165E|CHIT1_ENST00000255427.3_Missense_Mutation_p.G155E	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	174					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GCGTTCCTTCCCTGAGGTCTG	0.602000													35	76					0	0	0.000814825	0	0
NLRP1	22861	broad.mit.edu	37	17	5445200	5445200	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:5445200C>T	ENST00000345221.3	-	6	3230	c.2676G>A	c.(2674-2676)ccG>ccA	p.P892P	NLRP1_ENST00000572272.1_Silent_p.P892P|NLRP1_ENST00000269280.4_Silent_p.P892P|NLRP1_ENST00000354411.3_Silent_p.P892P|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000577119.1_Silent_p.P892P|NLRP1_ENST00000262467.5_Silent_p.P892P	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	892					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GCTTGCAGCTCGGCTGTCTCA	0.587000													16	39					0	0	0.00074312	0	0
PCGF6	84108	broad.mit.edu	37	10	105104827	105104827	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:105104827G>A	ENST00000369847.3	-	6	803	c.736C>T	c.(736-738)Cgt>Tgt	p.R246C	PCGF6_ENST00000490296.1_5'UTR|PCGF6_ENST00000337211.4_Intron	NM_001011663.1	NP_001011663.1	Q9BYE7	PCGF6_HUMAN	polycomb group ring finger 6	246					negative regulation of transcription, DNA-dependent	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)	8		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)		GGTGGAATACGAAACACTGAT	0.318000													13	54					0	0	0.000422831	0	0
NLRP10	338322	broad.mit.edu	37	11	7984855	7984855	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:7984855G>A	ENST00000328600.2	-	1	349	c.188C>T	c.(187-189)tCa>tTa	p.S63L		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	63	DAPIN.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCCATACTTTGAAATCAGTAA	0.517000													16	51					0	0	0.00121646	0	0
MYH1	4619	broad.mit.edu	37	17	10400637	10400637	+	Missense_Mutation	SNP	C	C	T	rs139013228		TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:10400637C>T	ENST00000226207.5	-	32	4592	c.4498G>A	c.(4498-4500)Gaa>Aaa	p.E1500K	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1500						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.E1500K(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTCAAGGTTTCAAGTTGGTCT	0.328000													32	54					0	0	0.00111076	0	0
ACVR2A	92	broad.mit.edu	37	2	148657386	148657386	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:148657386A>T	ENST00000241416.7	+	4	1083	c.447A>T	c.(445-447)ttA>ttT	p.L149F	ACVR2A_ENST00000404590.1_Missense_Mutation_p.L149F|AC009480.3_ENST00000402410.2_RNA|ACVR2A_ENST00000535787.1_Missense_Mutation_p.L41F	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	149					activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		CACTTATGTTAATTGCGGGGA	0.443000													71	115					0	0	0.000781405	0	0
CSF2RA	1438	broad.mit.edu	37	X	1407513	1407513	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chrX:1407513G>A	ENST00000381524.3	+	5	507	c.321G>A	c.(319-321)caG>caA	p.Q107Q	CSF2RA_ENST00000355805.2_Silent_p.Q107Q|CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000381529.3_Silent_p.Q107Q|CSF2RA_ENST00000381509.3_Silent_p.Q107Q|CSF2RA_ENST00000432318.2_Silent_p.Q107Q|CSF2RA_ENST00000361536.3_Silent_p.Q107Q|CSF2RA_ENST00000417535.2_Silent_p.Q107Q|CSF2RA_ENST00000355432.3_Silent_p.Q107Q|CSF2RA_ENST00000381500.1_Silent_p.Q107Q			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	107						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GATTTCAACAGAAACTGCTTT	0.453000													96	91					0	0	0.000781405	0	0
ACACA	31	broad.mit.edu	37	17	35620751	35620751	+	Missense_Mutation	SNP	G	G	C			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:35620751G>C	ENST00000353139.5	-	11	1647	c.1166C>G	c.(1165-1167)gCc>gGc	p.A389G	ACACA_ENST00000360679.3_Missense_Mutation_p.A294G|ACACA_ENST00000335166.5_Missense_Mutation_p.A274G|ACACA_ENST00000394406.2_Missense_Mutation_p.A352G	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	352	ATP-grasp.|Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	AGATTGTTTGGCTAGTCTCAT	0.398000													32	36					0	0	0.000692331	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2307182	2307182	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr4:2307182G>A	ENST00000290974.2	-	8	1224	c.885C>T	c.(883-885)ccC>ccT	p.P295P	ZFYVE28_ENST00000511071.1_Silent_p.P265P|RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000515312.1_Silent_p.P225P	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	295					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CTGCGCGGATGGGGAACTCCA	0.627000													8	39					0	0	0.000274275	0	0
DNAH5	1767	broad.mit.edu	37	5	13823393	13823393	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr5:13823393C>T	ENST00000265104.4	-	40	6770	c.6666G>A	c.(6664-6666)ctG>ctA	p.L2222L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2222					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTGCTGCTTCCAGTTCAGGGT	0.413000									Kartagener syndrome				27	104					0	0	0.00106085	0	0
FAM104A	84923	broad.mit.edu	37	17	71228278	71228278	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:71228278C>T	ENST00000405159.3	-	1	232	c.168G>A	c.(166-168)gcG>gcA	p.A56A	FAM104A_ENST00000581110.1_Silent_p.A56A|FAM104A_ENST00000403627.3_Silent_p.A56A|FAM104A_ENST00000583178.1_Intron|FAM104A_ENST00000583024.1_Silent_p.A56A	NM_001098832.1	NP_001092302.1	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	56										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			TACGCGGCGCCGCTCCGCGAA	0.701000													8	20					0	0	0.000442599	0	0
MAP3K4	4216	broad.mit.edu	37	6	161470199	161470199	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:161470199C>T	ENST00000392142.4	+	3	1043	c.895C>T	c.(895-897)Ctt>Ttt	p.L299F	MAP3K4_ENST00000366920.2_Missense_Mutation_p.L299F|MAP3K4_ENST00000366919.2_Missense_Mutation_p.L299F|MAP3K4_ENST00000348824.7_Missense_Mutation_p.L299F	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	299					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TAATGAAATCCTTACTTTCAA	0.443000													16	33					0	0	0.000308642	0	0
NELL1	4745	broad.mit.edu	37	11	20869158	20869158	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:20869158G>T	ENST00000298925.5	+	5	602	c.449G>T	c.(448-450)aGg>aTg	p.R150M	NELL1_ENST00000532434.1_Missense_Mutation_p.R122M|NELL1_ENST00000357134.5_Missense_Mutation_p.R122M|NELL1_ENST00000325319.5_Intron			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	122	TSP N-terminal.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AGTGGCCTGAGGGATGAGATT	0.448000													6	21					0.000442599	0.00247653	0.000442599	1	0
NRG1	3084	broad.mit.edu	37	8	32585487	32585487	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr8:32585487G>A	ENST00000341377.5	+	6	1040	c.523G>A	c.(523-525)Ggg>Agg	p.G175R	NRG1_ENST00000520407.1_Missense_Mutation_p.G356R|NRG1_ENST00000287840.5_Missense_Mutation_p.G175R|NRG1_ENST00000521670.1_Missense_Mutation_p.G175R|NRG1_ENST00000287842.3_Missense_Mutation_p.G175R|NRG1_ENST00000519301.1_Missense_Mutation_p.G120R|NRG1_ENST00000338921.4_Missense_Mutation_p.G175R|NRG1_ENST00000287845.5_Missense_Mutation_p.G141R|NRG1_ENST00000523079.1_Missense_Mutation_p.G175R|NRG1_ENST00000520502.2_Missense_Mutation_p.G230R|NRG1_ENST00000539990.1_Missense_Mutation_p.G21R|NRG1_ENST00000405005.2_Missense_Mutation_p.G175R|NRG1_ENST00000356819.4_Missense_Mutation_p.G175R			Q02297	NRG1_HUMAN	neuregulin 1	175	Ser/Thr-rich.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		ATCCACCACTGGGACAAGCCA	0.428000													43	53					0	0	0.000781405	0	0
ESYT3	83850	broad.mit.edu	37	3	138179482	138179482	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:138179482C>T	ENST00000389567.4	+	7	954	c.768C>T	c.(766-768)acC>acT	p.T256T	ESYT3_ENST00000289135.4_Silent_p.T256T	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	256						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						CTGGCCTGACCAACCTGCTGG	0.602000													41	136					0	0	0.000680045	0	0
OR11G2	390439	broad.mit.edu	37	14	20665797	20665797	+	Silent	SNP	C	C	T	rs138212036	byFrequency	TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr14:20665797C>T	ENST00000357366.3	+	1	303	c.303C>T	c.(301-303)ctC>ctT	p.L101L		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		ACATCCTGCTCGCCAACTTCT	0.522000													9	58					0	0	0.000442599	0	0
E2F8	79733	broad.mit.edu	37	11	19247144	19247144	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:19247144G>A	ENST00000527884.1	-	12	2277	c.2045C>T	c.(2044-2046)tCa>tTa	p.S682L	E2F8_ENST00000250024.4_Missense_Mutation_p.S682L|E2F8_ENST00000529188.1_5'UTR|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	682					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GAGTTCAGATGATGTCACTGG	0.453000													28	39					0	0	0.000409698	0	0
ZEB1	6935	broad.mit.edu	37	10	31810034	31810034	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:31810034A>T	ENST00000446923.2	+	7	2114	c.1723A>T	c.(1723-1725)Aac>Tac	p.N575Y	ZEB1_ENST00000560721.2_Missense_Mutation_p.N571Y|ZEB1_ENST00000361642.5_Missense_Mutation_p.N592Y|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000320985.10_Missense_Mutation_p.N591Y|ZEB1_ENST00000542815.3_Missense_Mutation_p.N524Y	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	591					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				ACCTTTAAAGAACCTCTTGTC	0.458000													8	41					0	0	0.000274275	0	0
COL4A5	1287	broad.mit.edu	37	X	107829912	107829912	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chrX:107829912C>T	ENST00000328300.6	+	19	1344	c.1100C>T	c.(1099-1101)cCt>cTt	p.P367L	COL4A5_ENST00000361603.2_Missense_Mutation_p.P367L	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	367	Triple-helical region.		Missing (in APSX; juvenile type).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CCTGGGTTGCCTGGAGAAAAA	0.413000									Alport syndrome with Diffuse Leiomyomatosis				43	27					0	0	0.000509022	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90499972	90499972	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr9:90499972C>T	ENST00000325643.5	+	4	636	c.570C>T	c.(568-570)tcC>tcT	p.S190S		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		CCAGCTTGTCCCCACCAGCTC	0.627000													26	24					0	0	0.00106085	0	0
RXFP2	122042	broad.mit.edu	37	13	32376445	32376445	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr13:32376445C>T	ENST00000298386.2	+	18	2239	c.2168C>T	c.(2167-2169)tCt>tTt	p.S723F	RXFP2_ENST00000380314.1_Missense_Mutation_p.S699F	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	723						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		AAAAGTTTATCTACATCCATT	0.353000													50	197					0	0	0.000781405	0	0
OR10H5	284433	broad.mit.edu	37	19	15905589	15905589	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:15905589C>T	ENST00000308940.8	+	1	829	c.731C>T	c.(730-732)tCt>tTt	p.S244F		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						ACCTGTGCCTCTCACCTCACT	0.552000													14	18					0	0	0.000295444	0	0
SLC6A1	6529	broad.mit.edu	37	3	11078619	11078619	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:11078619G>A	ENST00000287766.4	+	16	2188	c.1767G>A	c.(1765-1767)gcG>gcA	p.A589A	SLC6A1_ENST00000536032.1_Silent_p.A411A	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	589					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	AGCCCCAGGCGGGCAGCTCCA	0.642000													10	37					0	0	0.000151284	0	0
TMOD1	7111	broad.mit.edu	37	9	100361935	100361935	+	Silent	SNP	G	G	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr9:100361935G>T	ENST00000395211.2	+	10	1171	c.1035G>T	c.(1033-1035)gcG>gcT	p.A345A	TMOD1_ENST00000259365.3_Silent_p.A345A|TMOD1_ENST00000375175.1_Silent_p.A218A	NM_001166116.1	NP_001159588.1	P28289	TMOD1_HUMAN	tropomodulin 1	345					muscle filament sliding	cytosol	actin binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		GGAGGCTTGCGGACCTGACTG	0.522000											OREG0019346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	45					0.000602214	0.00335428	0.000602214	1	0
SCN11A	11280	broad.mit.edu	37	3	38991652	38991652	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:38991652C>T	ENST00000450244.1	-	1	400	c.202G>A	c.(202-204)Gac>Aac	p.D68N	SCN11A_ENST00000302328.3_Missense_Mutation_p.D68N|SCN11A_ENST00000444237.2_Missense_Mutation_p.D68N|SCN11A_ENST00000456224.3_Missense_Mutation_p.D68N			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	68					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CGAGGAATGTCGCCATAGAGC	0.542000													22	70					0	0	0.000229342	0	0
FAT4	79633	broad.mit.edu	37	4	126336328	126336328	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr4:126336328C>T	ENST00000394329.3	+	5	6223	c.6210C>T	c.(6208-6210)ttC>ttT	p.F2070F	FAT4_ENST00000335110.5_Silent_p.F368F	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2070	Cadherin 20.				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						CTGTTGTTTTCAAAGCTCAAG	0.393000													53	78					0	0	0.000781405	0	0
C19orf33	64073	broad.mit.edu	37	19	38795318	38795318	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:38795318G>A	ENST00000591889.1	+	5	455	c.455G>A	c.(454-456)gGa>gAa	p.G152E	C19orf33_ENST00000588605.1_Silent_p.R84R|C19orf33_ENST00000301246.5_Missense_Mutation_p.D65N																							TTCGGACACGGATGTGAAGGT	0.692000													11	24					0	0	0.000219431	0	0
OBSCN	84033	broad.mit.edu	37	1	228559341	228559341	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:228559341C>T	ENST00000570156.2	+	105	23807	c.23733C>T	c.(23731-23733)acC>acT	p.T7911T	OBSCN_ENST00000422127.1_Silent_p.T6954T|OBSCN_ENST00000366707.4_Silent_p.T4588T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6954	Protein kinase 2.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCTCTGGCACCCACTTGGCCC	0.701000													7	10					0	0	0.000157383	0	0
SLC17A5	26503	broad.mit.edu	37	6	74351495	74351495	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:74351495G>A	ENST00000355773.5	-	3	712	c.444C>T	c.(442-444)gtC>gtT	p.V148V	SLC17A5_ENST00000481996.1_5'UTR|SLC17A5_ENST00000393019.3_Silent_p.V148V	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	148					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ACAGGGTGAGGACAGCAGTGC	0.453000													33	65					0	0	0.000409698	0	0
LILRA2	11027	broad.mit.edu	37	19	55085818	55085818	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:55085818C>T	ENST00000251377.3	+	4	254	c.121C>T	c.(121-123)Cag>Tag	p.Q41*	LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Nonsense_Mutation_p.Q41*|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Nonsense_Mutation_p.Q41*|LILRA2_ENST00000391737.1_Nonsense_Mutation_p.Q29*|LILRA2_ENST00000495786.1_3'UTR|LILRB1_ENST00000418536.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		TGTGATCATCCAGGGAAGTCC	0.537000													22	38					0	0	0.00047179	0	0
FOCAD	54914	broad.mit.edu	37	9	20990133	20990133	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr9:20990133C>T	ENST00000380249.1	+	44	5380	c.5016C>T	c.(5014-5016)ttC>ttT	p.F1672F	FOCAD_ENST00000338382.6_Silent_p.F1672F|FOCAD_ENST00000605086.1_Silent_p.F1108F	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	1672						integral to membrane	binding										CTTTGGACTTCTTCTTGCTGA	0.478000													40	21					0	0	0.000781405	0	0
IKBKE	9641	broad.mit.edu	37	1	206653840	206653840	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:206653840C>T	ENST00000367120.3	+	13	1764	c.1391C>T	c.(1390-1392)tCc>tTc	p.S464F	IKBKE_ENST00000462698.1_3'UTR|IKBKE_ENST00000537984.1_Missense_Mutation_p.S379F	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	464					DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					GCAAGGACATCCCTCCTCTAC	0.617000													9	12					0	0	0.000274275	0	0
GRIN2B	2904	broad.mit.edu	37	12	13906490	13906490	+	Silent	SNP	G	G	A	rs142203984		TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:13906490G>A	ENST00000279593.3	-	3	980	c.771C>T	c.(769-771)atC>atT	p.I257I		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	257					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.I257I(2)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GACTGGGCACGATCCACGTGT	0.532000													40	41					0	0	0.000589545	0	0
AGO1	26523	broad.mit.edu	37	1	36358768	36358768	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:36358768C>T	ENST00000373204.4	+	4	614	c.401C>T	c.(400-402)gCc>gTc	p.A134V	AGO1_ENST00000373206.1_Missense_Mutation_p.A59V	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		AAGTGGCTAGCCATTGTGAGC	0.557000													14	12					0	0	0.000219431	0	0
GHRHR	2692	broad.mit.edu	37	7	31011632	31011632	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:31011632C>T	ENST00000409904.3	+	3	585	c.327C>T	c.(325-327)atC>atT	p.I109I	GHRHR_ENST00000326139.2_Silent_p.I173I|GHRHR_ENST00000461424.1_3'UTR|GHRHR_ENST00000409316.1_5'UTR			Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	173					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	CCACTTTTATCCTCAAGGCGG	0.567000													38	43					0	0	0.00148497	0	0
SLC36A2	153201	broad.mit.edu	37	5	150704867	150704867	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr5:150704867G>A	ENST00000335244.4	-	8	1119	c.990C>T	c.(988-990)agC>agT	p.S330S	SLC36A2_ENST00000521967.1_Silent_p.S330S|SLC36A2_ENST00000450886.1_Silent_p.S54S	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	330					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCAGGTTAAGGCTTATGCTGG	0.537000													9	5					0	0	0.000274275	0	0
SLC35G2	80723	broad.mit.edu	37	3	136574014	136574014	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:136574014A>T	ENST00000446465.2	+	2	1340	c.712A>T	c.(712-714)Atc>Ttc	p.I238F	RP11-85F14.5_ENST00000461864.1_RNA|SLC35G2_ENST00000393079.3_Missense_Mutation_p.I238F|RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000470236.1_RNA	NM_025246.2	NP_079522.2	Q8TBE7	TMM22_HUMAN	solute carrier family 35, member G2	238	DUF6 1.					Golgi apparatus|integral to membrane											TCTTGTCATGATCCCAAACAT	0.423000													18	46					0	0	0.000958276	0	0
TMC5	79838	broad.mit.edu	37	16	19468037	19468037	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr16:19468037C>T	ENST00000219821.5	+	1	266	c.9C>T	c.(7-9)tcC>tcT	p.S3S	TMC5_ENST00000541464.1_Intron|TMC5_ENST00000561503.1_5'UTR|TMC5_ENST00000542583.2_Intron|TMC5_ENST00000396229.2_Intron|TMC5_ENST00000381414.4_Intron|TMC5_ENST00000564959.1_Silent_p.S3S	NM_024780.4	NP_079056.2	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	0						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AGATGCTGTCCGATGACCACG	0.512000													24	24					0	0	0.000720815	0	0
WWC1	23286	broad.mit.edu	37	5	167850762	167850762	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr5:167850762C>T	ENST00000265293.4	+	11	2001	c.1499C>T	c.(1498-1500)aCc>aTc	p.T500I	WWC1_ENST00000521089.1_Missense_Mutation_p.T500I	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	500					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		TGCATCACCACCATCCACGAG	0.637000													33	21					0	0	0.00178596	0	0
RIN1	9610	broad.mit.edu	37	11	66103267	66103267	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:66103267G>A	ENST00000311320.4	-	3	474	c.348C>T	c.(346-348)ttC>ttT	p.F116F	RIN1_ENST00000530056.1_Silent_p.F11F|RIN1_ENST00000424433.2_Silent_p.F11F|RP11-867G23.12_ENST00000526655.1_RNA	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	116	SH2.				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						GGCTGGAGACGAAGGAGGGGC	0.637000													11	13					0	0	0.000978159	0	0
TEKT1	83659	broad.mit.edu	37	17	6718550	6718550	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:6718550G>A	ENST00000338694.2	-	5	690	c.561C>T	c.(559-561)atC>atT	p.I187I	TEKT1_ENST00000535086.1_Silent_p.I41I	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	187					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		p.I187I(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				GCGAGAAGCAGATATCATCTA	0.488000													40	86					0	0	0.000509022	0	0
HCN4	10021	broad.mit.edu	37	15	73624501	73624501	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr15:73624501C>T	ENST00000261917.3	-	3	2335	c.1342G>A	c.(1342-1344)Gac>Aac	p.D448N		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	448					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		ACCCAGCAGTCGTCAGGGAAG	0.622000													34	28					0	0	0.00148497	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808424	18808424	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:18808424C>T	ENST00000400664.1	+	1	1001	c.949C>T	c.(949-951)Cca>Tca	p.P317S		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	317						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GACTGAGGTTCCATCCCCTAG	0.647000													12	11					0	0	0.00136819	0	0
CHST12	55501	broad.mit.edu	37	7	2473051	2473051	+	Silent	SNP	C	C	T	rs147486579		TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:2473051C>T	ENST00000258711.6	+	2	912	c.777C>T	c.(775-777)ttC>ttT	p.F259F		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	259					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		GCAGCAAGTTCGAGCTGGAGA	0.632000													42	56					0	0	0.000509022	0	0
TBC1D4	9882	broad.mit.edu	37	13	75861125	75861125	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr13:75861125G>A	ENST00000377636.3	-	21	4046	c.3700C>T	c.(3700-3702)Ctg>Ttg	p.L1234L	TBC1D4_ENST00000377625.2_Silent_p.L1171L|TBC1D4_ENST00000431480.2_Silent_p.L1226L|TBC1D4_ENST00000425511.1_Silent_p.L398L	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1234						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		AGATTTTCCAGGTTTGATTCC	0.408000													20	90					0	0	0.000375601	0	0
SIM1	6492	broad.mit.edu	37	6	100901681	100901681	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:100901681G>A	ENST00000369208.3	-	3	997	c.215C>T	c.(214-216)cCc>cTc	p.P72L	SIM1_ENST00000262901.4_Missense_Mutation_p.P72L			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	72					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GTTGTCCAGGGGGCTGGTCCG	0.622000													11	41					0	0	0.000673444	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128840253	128840253	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:128840253G>A	ENST00000310343.9	-	22	4812	c.4813C>T	c.(4813-4815)Ccc>Tcc	p.P1605S	ARHGAP32_ENST00000527272.1_Missense_Mutation_p.P1256S|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.P1256S|ARHGAP32_ENST00000524655.1_3'UTR	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1605	Interaction with GAB2.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TCATCTGGGGGAACTTCTGTC	0.532000													11	47					0	0	0.00136819	0	0
GRIN3A	116443	broad.mit.edu	37	9	104340091	104340091	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr9:104340091C>T	ENST00000361820.3	-	8	3567	c.2967G>A	c.(2965-2967)gaG>gaA	p.E989E		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	989					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GCTGCTTTTCCTCTATAAATG	0.358000													59	29					0	0	0.000781405	0	0
PTPN4	5775	broad.mit.edu	37	2	120702673	120702673	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:120702673G>A	ENST00000263708.2	+	16	2143	c.1372G>A	c.(1372-1374)Gga>Aga	p.G458R	PTPN4_ENST00000544261.1_Missense_Mutation_p.G91R	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	458						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	AGAGACCCCTGGAGATGGGAA	0.373000													12	55					0	0	0.000151284	0	0
CAMK1D	57118	broad.mit.edu	37	10	12803030	12803030	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:12803030T>A	ENST00000378847.3	+	4	720	c.383T>A	c.(382-384)gTc>gAc	p.V128D	CAMK1D_ENST00000378845.1_Missense_Mutation_p.V128D	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	128	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		ATCCGCCAAGTCTTGGACGCC	0.552000													6	147					0	0	0.00116845	0	0
MBD5	55777	broad.mit.edu	37	2	149247024	149247024	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:149247024C>T	ENST00000407073.1	+	12	4121	c.3124C>T	c.(3124-3126)Cct>Tct	p.P1042S	MBD5_ENST00000404807.1_Missense_Mutation_p.P1275S	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1042						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CACAGCACTTCCTGAGAATCC	0.468000													6	33					0	0	0.00116845	0	0
C20orf166-AS1	253868	broad.mit.edu	37	20	61143756	61143756	+	RNA	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr20:61143756G>A	ENST00000475015.1	-	0	582				C20orf166-AS1_ENST00000412495.1_RNA																							CTTGGCTTCCGAGAAACCGCT	0.667000													26	76					0	0	0.00047179	0	0
ARMC2	84071	broad.mit.edu	37	6	109225519	109225519	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:109225519G>A	ENST00000392644.4	+	8	1102	c.934G>A	c.(934-936)Gga>Aga	p.G312R	ARMC2_ENST00000368972.3_Missense_Mutation_p.G147R	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	312							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		TAAATTTAAGGGAAGAAGTAT	0.383000													55	87					0	0	0.000781405	0	0
GMDS	2762	broad.mit.edu	37	6	1961041	1961041	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:1961041C>T	ENST00000380815.4	-	5	774	c.505G>A	c.(505-507)Gag>Aag	p.E169K	GMDS_ENST00000530927.1_Missense_Mutation_p.E139K	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	169					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity	p.E169*(1)	GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		GGGGTGGTCTCCTTCTGGGGT	0.502000													27	88					0	0	0.000339439	0	0
METTL17	64745	broad.mit.edu	37	14	21463363	21463363	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr14:21463363C>T	ENST00000339374.6	+	10	1149	c.916C>T	c.(916-918)Ctc>Ttc	p.L306F	METTL17_ENST00000556670.2_Missense_Mutation_p.L306F|METTL17_ENST00000382985.4_Missense_Mutation_p.L306F	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	306					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						GCACAGCCTTCTCATGGATGC	0.448000													71	137					0	0	0.000781405	0	0
FARS2	10667	broad.mit.edu	37	6	5431306	5431306	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:5431306C>T	ENST00000324331.6	+	4	1141	c.805C>T	c.(805-807)Cct>Tct	p.P269S	FARS2_ENST00000274680.4_Missense_Mutation_p.P269S			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	269					phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	CTGCTACTTCCCTTTTACACA	0.428000													31	79					0	0	0.000491102	0	0
BCKDHB	594	broad.mit.edu	37	6	81053415	81053415	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:81053415C>T	ENST00000320393.6	+	10	1120	c.1073C>T	c.(1072-1074)tCa>tTa	p.S358L	BCKDHB_ENST00000356489.5_Missense_Mutation_p.S358L|BCKDHB_ENST00000545529.1_3'UTR	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	358					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		GCTCCTATATCAAGAGTATGT	0.378000													16	44					0	0	0.000308642	0	0
NDST4	64579	broad.mit.edu	37	4	115856431	115856431	+	Silent	SNP	T	T	G			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr4:115856431T>G	ENST00000264363.2	-	6	2145	c.1467A>C	c.(1465-1467)ccA>ccC	p.P489P		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	489	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GGGGTCCTCCTGGATATTCTT	0.403000													12	64					0	0	0.000308642	0	0
FZR1	51343	broad.mit.edu	37	19	3527749	3527749	+	Silent	SNP	C	C	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:3527749C>A	ENST00000441788.2	+	7	827	c.591C>A	c.(589-591)tcC>tcA	p.S197S	FZR1_ENST00000395095.3_Silent_p.S197S|FZR1_ENST00000313639.8_Intron	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	197					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTGGTCGTCCCTCAATGTGC	0.632000													12	26					4.3838e-07	2.47942e-06	0.000151284	1	0
LRRC56	115399	broad.mit.edu	37	11	540700	540700	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:540700G>A	ENST00000270115.7	+	4	516	c.16G>A	c.(16-18)Gac>Aac	p.D6N		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	6										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCTGGGCTGGGACAGATCCCG	0.667000													12	30					0	0	0.000151284	0	0
TRIML2	205860	broad.mit.edu	37	4	189022313	189022313	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr4:189022313C>T	ENST00000512729.1	-	3	601	c.227G>A	c.(226-228)aGa>aAa	p.R76K	TRIML2_ENST00000326754.3_Missense_Mutation_p.R76K|TRIML2_ENST00000536972.1_Missense_Mutation_p.R126K	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	76							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TTCCTGCTGTCTCTGGAGATT	0.428000													31	22					0	0	0.00058488	0	0
ELMOD1	55531	broad.mit.edu	37	11	107518222	107518222	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:107518222C>T	ENST00000265840.7	+	7	714	c.449C>T	c.(448-450)cCa>cTa	p.P150L	ELMOD1_ENST00000531234.1_Missense_Mutation_p.P144L|ELMOD1_ENST00000443271.2_Missense_Mutation_p.P150L	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	150	ELMO.				phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		CCCAATACTCCACTGGAATCT	0.383000													21	31					0	0	0.000586117	0	0
WSCD2	9671	broad.mit.edu	37	12	108589750	108589750	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:108589750G>A	ENST00000332082.4	+	3	959	c.141G>A	c.(139-141)ggG>ggA	p.G47G	WSCD2_ENST00000549903.1_Silent_p.G47G|WSCD2_ENST00000261400.3_Silent_p.G47G|WSCD2_ENST00000547525.1_Silent_p.G47G			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	47						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CTGTCTCGGGGAACCAGGCGA	0.612000													54	68					0	0	0.000781405	0	0
LIPE	3991	broad.mit.edu	37	19	42931222	42931222	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:42931222G>A	ENST00000244289.4	-	1	356	c.80C>T	c.(79-81)cCt>cTt	p.P27L	LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000597203.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	27					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TTCTGGCCCAGGCTCTAGCGG	0.537000													29	38					0	0	0.00058488	0	0
FSTL4	23105	broad.mit.edu	37	5	132535168	132535168	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr5:132535168G>A	ENST00000265342.7	-	16	2397	c.2148C>T	c.(2146-2148)atC>atT	p.I716I	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	716						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCCGCACTGTGATCTCCTGCA	0.572000													25	17					0	0	0.000375601	0	0
ATP10A	57194	broad.mit.edu	37	15	26107818	26107818	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr15:26107818G>A	ENST00000356865.6	-	1	537	c.426C>T	c.(424-426)caC>caT	p.H142H		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	142					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGCAGCCCAGGTGGTTGATCT	0.692000													9	9					0	0	0.000673444	0	0
PRDM16	63976	broad.mit.edu	37	1	3319548	3319548	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:3319548C>T	ENST00000378398.3	+	7	955	c.873C>T	c.(871-873)ttC>ttT	p.F291F	PRDM16_ENST00000442529.2_Silent_p.F290F|PRDM16_ENST00000441472.2_Silent_p.F290F|PRDM16_ENST00000514189.1_Silent_p.F291F|PRDM16_ENST00000511072.1_Silent_p.F291F|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Silent_p.F290F|PRDM16_ENST00000270722.5_Silent_p.F290F			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	290					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		AGCGGATGTTCCCCAACAAGT	0.652000			T	EVI1	"""MDS, AML"""								9	11					0	0	0.000442599	0	0
CCDC172	374355	broad.mit.edu	37	10	118101596	118101596	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:118101596G>A	ENST00000333254.3	+	5	582	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K	CCDC172_ENST00000497093.1_3'UTR	NM_198515.2	NP_940917.1			coiled-coil domain containing 172																		ATTTATTAAGGAAATTACAGA	0.264000													10	57					0	0	0.00136819	0	0
UGT3A1	133688	broad.mit.edu	37	5	35991297	35991297	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr5:35991297C>T	ENST00000274278.3	-	1	403	c.46G>A	c.(46-48)Ggg>Agg	p.G16R	UGT3A1_ENST00000507113.1_Missense_Mutation_p.G16R|UGT3A1_ENST00000503189.1_Missense_Mutation_p.G16R|UGT3A1_ENST00000333811.4_Intron|UGT3A1_ENST00000513233.1_5'UTR	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	16						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGCAGGACCCCAGAAAGAAGG	0.622000													22	40					0	0	0.00152264	0	0
RP11-125O5.2	0	broad.mit.edu	37	12	21229492	21229492	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:21229492C>T	ENST00000590779.1	+	3	215	c.215C>T	c.(214-216)cCa>cTa	p.P72L	SLCO1B7_ENST00000421593.2_Silent_p.S571S|LST3_ENST00000381541.3_Silent_p.S618S|SLCO1B7_ENST00000554957.1_Silent_p.S618S|SLCO1B3_ENST00000553473.1_Silent_p.S679S|LST3_ENST00000540229.1_Silent_p.S679S																							TATATAATTCCACATATTTGG	0.323000													127	115					0	0	0.000781405	0	0
CHFR	55743	broad.mit.edu	37	12	133448935	133448935	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:133448935C>T	ENST00000266880.7	-	4	342	c.279G>A	c.(277-279)caG>caA	p.Q93Q	CHFR_ENST00000443047.2_Silent_p.Q93Q|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000450056.2_Silent_p.Q93Q|CHFR_ENST00000315585.7_Silent_p.Q93Q|CHFR_ENST00000432561.2_Silent_p.Q93Q			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	93					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		AAGGGCATGTCTGCTTCTTAA	0.428000													36	41					0	0	0.00148497	0	0
NRK	203447	broad.mit.edu	37	X	105153188	105153188	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chrX:105153188G>A	ENST00000428173.2	+	13	1861	c.1558G>A	c.(1558-1560)Gaa>Aaa	p.E520K	NRK_ENST00000243300.9_Missense_Mutation_p.E519K			Q7Z2Y5	NRK_HUMAN	Nik related kinase	519	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GGTACCAGAGGAATTTCAGGG	0.547000										HNSCC(51;0.14)			10	3					0	0	0.000442599	0	0
KMT2A	4297	broad.mit.edu	37	11	118344497	118344497	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:118344497G>A	ENST00000534358.1	+	3	2646	c.2623G>A	c.(2623-2625)Gag>Aag	p.E875K	KMT2A_ENST00000389506.5_Missense_Mutation_p.E875K|KMT2A_ENST00000354520.4_Missense_Mutation_p.E875K	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		caagagtagagagagagaccg	0.473000													20	11					0	0	0.000958276	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	143613	143613	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr5:143613C>T	ENST00000283426.6	+	3	788	c.738C>T	c.(736-738)atC>atT	p.I246I		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	246					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		TCCATAGCATCCCCAGGTGGG	0.662000													6	27					0	0	0.000157383	0	0
GPR158	57512	broad.mit.edu	37	10	25684866	25684866	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:25684866C>T	ENST00000376351.3	+	3	1394	c.1035C>T	c.(1033-1035)ttC>ttT	p.F345F		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	345						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GCCTAGGATTCGTTCTTGGAG	0.413000													9	22					0	0	0.000442599	0	0
CABP4	57010	broad.mit.edu	37	11	67223192	67223192	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:67223192C>T	ENST00000325656.5	+	1	375	c.298C>T	c.(298-300)Cgt>Tgt	p.R100C	CABP4_ENST00000438189.2_5'UTR|CABP4_ENST00000542025.2_3'UTR	NM_145200.3	NP_660201.1	P57796	CABP4_HUMAN	calcium binding protein 4	100					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CCACCGACATCGTCCTGACTC	0.677000													8	12					0	0	0.000274275	0	0
UGT3A1	133688	broad.mit.edu	37	5	35991296	35991296	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr5:35991296C>T	ENST00000274278.3	-	1	404	c.47G>A	c.(46-48)gGg>gAg	p.G16E	UGT3A1_ENST00000507113.1_Missense_Mutation_p.G16E|UGT3A1_ENST00000503189.1_Missense_Mutation_p.G16E|UGT3A1_ENST00000333811.4_Intron|UGT3A1_ENST00000513233.1_5'UTR	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	16						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAGCAGGACCCCAGAAAGAAG	0.617000													22	40					0	0	0.00152264	0	0
MYOF	26509	broad.mit.edu	37	10	95097616	95097616	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:95097616C>T	ENST00000371501.4	-	40	4515	c.4393G>A	c.(4393-4395)Gaa>Aaa	p.E1465K	MYOF_ENST00000371502.4_Missense_Mutation_p.E1484K|MYOF_ENST00000358334.5_Missense_Mutation_p.E1452K|MYOF_ENST00000359263.4_Missense_Mutation_p.E1465K			Q9NZM1	MYOF_HUMAN	myoferlin	1465					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CCGCATTTTTCATGTTCCCCT	0.423000													17	53					0	0	0.00152264	0	0
CMTR1	23070	broad.mit.edu	37	6	37420894	37420894	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:37420894C>T	ENST00000373451.4	+	7	845	c.681C>T	c.(679-681)atC>atT	p.I227I		NM_015050.2	NP_055865.1	Q8N1G2	MTR1_HUMAN		227					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						ATGAGATGATCCGAGGAGTCT	0.507000													61	75					0	0	0.000781405	0	0
ACTL9	284382	broad.mit.edu	37	19	8807924	8807924	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:8807924C>T	ENST00000324436.3	-	1	1248	c.1128G>A	c.(1126-1128)agG>agA	p.R376R		NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN	actin-like 9	376						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CGGAGAAATTCCTGGTGGGCT	0.667000													6	13					0	0	0.000673444	0	0
ACAN	176	broad.mit.edu	37	15	89400699	89400699	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr15:89400699G>A	ENST00000439576.2	+	12	5257	c.4883G>A	c.(4882-4884)gGa>gAa	p.G1628E	ACAN_ENST00000352105.7_Missense_Mutation_p.G1628E|ACAN_ENST00000559004.1_Missense_Mutation_p.G1628E|ACAN_ENST00000561243.1_Missense_Mutation_p.G1628E	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1628					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTTCCCTCTGGATTTAGTGGT	0.532000													25	144					0	0	0.00106085	0	0
GRIK1	2897	broad.mit.edu	37	21	30959753	30959753	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr21:30959753G>A	ENST00000399914.1	-	11	2202	c.1681C>T	c.(1681-1683)Cca>Tca	p.P561S	GRIK1_ENST00000327783.4_Missense_Mutation_p.P576S|GRIK1_ENST00000389125.3_Missense_Mutation_p.P561S|GRIK1_ENST00000535441.1_Missense_Mutation_p.P578S|GRIK1_ENST00000399907.1_Missense_Mutation_p.P576S|GRIK1_ENST00000399913.1_Missense_Mutation_p.P576S|GRIK1_ENST00000309434.7_Missense_Mutation_p.P578S|GRIK1_ENST00000389124.2_Missense_Mutation_p.P576S|GRIK1_ENST00000399909.1_Missense_Mutation_p.P561S			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	576					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CAAATATCTGGAGACAGGGGG	0.473000													22	35					0	0	0.00106085	0	0
EHD4	30844	broad.mit.edu	37	15	42193093	42193093	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr15:42193093G>A	ENST00000220325.4	-	6	1459	c.1376C>T	c.(1375-1377)tCg>tTg	p.S459L		NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	459	EH.				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		ATTGATGGGCGACAGAGTGTA	0.602000													8	39					0	0	0.000274275	0	0
NUSAP1	51203	broad.mit.edu	37	15	41643263	41643263	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr15:41643263A>T	ENST00000260359.6	+	4	603	c.339A>T	c.(337-339)agA>agT	p.R113S	NUSAP1_ENST00000560747.1_Missense_Mutation_p.R127S|NUSAP1_ENST00000560177.1_Missense_Mutation_p.R127S|NUSAP1_ENST00000559596.1_Missense_Mutation_p.R128S|NUSAP1_ENST00000450318.1_Missense_Mutation_p.R128S|NUSAP1_ENST00000450592.2_Missense_Mutation_p.R105S|NUSAP1_ENST00000558123.1_3'UTR|NUSAP1_ENST00000414849.2_Missense_Mutation_p.R128S	NM_001243142.1|NM_001243143.1|NM_016359.4|NM_018454.7	NP_001230071.1|NP_001230072.1|NP_057443.2|NP_060924.4	Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	128					cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	13		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		AGGATCTCAGAGCTACTGCAA	0.378000													15	21					0	0	0.000219431	0	0
BCL6B	255877	broad.mit.edu	37	17	6929847	6929847	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:6929847C>T	ENST00000293805.5	+	6	1053	c.961C>T	c.(961-963)Cct>Tct	p.P321S		NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	321						nucleus	zinc ion binding			skin(1)	1						CTCCTTGGTTCCTGGGGACGA	0.567000													40	80					0	0	0.000374591	0	0
NVL	4931	broad.mit.edu	37	1	224473799	224473799	+	Missense_Mutation	SNP	G	G	C			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:224473799G>C	ENST00000281701.6	-	15	2087	c.1828C>G	c.(1828-1830)Ctt>Gtt	p.L610V	NVL_ENST00000361463.3_Missense_Mutation_p.L504V|NVL_ENST00000482491.1_Missense_Mutation_p.L334V|NVL_ENST00000469075.1_Missense_Mutation_p.L519V|NVL_ENST00000340871.4_Missense_Mutation_p.L421V|NVL_ENST00000391875.2_Missense_Mutation_p.L504V	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	610						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		ACCAATCCAAGAGCTTTGAAC	0.458000													11	64					0	0	0.000978159	0	0
KCNH2	3757	broad.mit.edu	37	7	150649877	150649877	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:150649877C>T	ENST00000392968.2	-	4	2025	c.905G>A	c.(904-906)tGg>tAg	p.W302*	KCNH2_ENST00000262186.5_Nonsense_Mutation_p.W398*|KCNH2_ENST00000430723.3_Nonsense_Mutation_p.W398*|KCNH2_ENST00000330883.4_Nonsense_Mutation_p.W58*			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	398					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	p.W398*(2)		NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	CAGGATGGTCCAGCGGTGGAT	0.647000													39	55					0	0	0.000509022	0	0
ANK2	287	broad.mit.edu	37	4	114275856	114275856	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr4:114275856C>T	ENST00000357077.4	+	38	6135	c.6082C>T	c.(6082-6084)Cgg>Tgg	p.R2028W	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.R1995W|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1995					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.R2028W(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGGTAAAGTTCGGGTAGAAAA	0.463000													16	47					0	0	0.000308642	0	0
OR5M10	390167	broad.mit.edu	37	11	56344979	56344979	+	Silent	SNP	A	A	G			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:56344979A>G	ENST00000526812.2	-	1	284	c.219T>C	c.(217-219)taT>taC	p.Y73Y		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						CATTGGAAGAATAGCAAATGT	0.463000													19	62					0	0	0.00121646	0	0
RIN2	54453	broad.mit.edu	37	20	19955747	19955747	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr20:19955747C>T	ENST00000255006.6	+	8	1374	c.1225C>T	c.(1225-1227)Cgg>Tgg	p.R409W	RIN2_ENST00000440354.2_Intron|RIN2_ENST00000484638.1_3'UTR	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	360					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						CCCTCCACCCCGGCTGAAGAA	0.607000													11	39					0	0	0.000673444	0	0
THSD7B	80731	broad.mit.edu	37	2	137928475	137928475	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:137928475C>T	ENST00000409968.1	+	7	1868	c.1690C>T	c.(1690-1692)Cgt>Tgt	p.R564C	THSD7B_ENST00000413152.2_Missense_Mutation_p.R533C|THSD7B_ENST00000272643.3_Missense_Mutation_p.R564C|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000485379.1_3'UTR					thrombospondin, type I, domain containing 7B											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)		CCTGGGACATCGTATTCTGAA	0.502000													7	24					0	0	0.000157383	0	0
DUOX2	50506	broad.mit.edu	37	15	45394069	45394069	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr15:45394069G>A	ENST00000389039.6	-	21	3158	c.2773C>T	c.(2773-2775)Cac>Tac	p.H925Y	DUOX2_ENST00000603300.1_Missense_Mutation_p.H925Y			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	925	EF-hand 3.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		AGCATGAAGTGAAAATCCTCC	0.572000													12	40					0	0	0.000219431	0	0
TPTE	7179	broad.mit.edu	37	21	10952951	10952951	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr21:10952951C>T	ENST00000298232.7	-	8	559	c.192G>A	c.(190-192)aaG>aaA	p.K64K	TPTE_ENST00000361285.4_Silent_p.K82K|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Silent_p.K44K	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	82					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCACAATTTTCTTAATCTTGC	0.308000													10	61					0	0	0.00136819	0	0
KCNH2	3757	broad.mit.edu	37	7	150647470	150647470	+	Silent	SNP	G	G	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:150647470G>T	ENST00000392968.2	-	7	3016	c.1896C>A	c.(1894-1896)atC>atA	p.I632I	KCNH2_ENST00000262186.5_Silent_p.I728I|KCNH2_ENST00000430723.3_Silent_p.I728I|KCNH2_ENST00000330883.4_Silent_p.I388I			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	728			P -> S (in LQT2).		blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GGTGCAGGCAGATGTCAGCCT	0.647000													20	62					3.7963e-18	2.17059e-17	0.00047179	1	0
SERPINA10	51156	broad.mit.edu	37	14	94754765	94754765	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr14:94754765G>A	ENST00000554723.1	-	3	1388	c.970C>T	c.(970-972)Cgt>Tgt	p.R324C	SERPINA10_ENST00000393096.1_Missense_Mutation_p.R284C|SERPINA10_ENST00000554173.1_Missense_Mutation_p.R284C|SERPINA10_ENST00000261994.4_Missense_Mutation_p.R284C			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	284					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.R284C(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		ACATGACAACGAAAATTCTTG	0.507000													18	41					0	0	0.00074312	0	0
AHCTF1	25909	broad.mit.edu	37	1	247065863	247065863	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:247065863G>A	ENST00000366508.1	-	8	1322	c.1186C>T	c.(1186-1188)Cga>Tga	p.R396*	AHCTF1_ENST00000326225.3_Nonsense_Mutation_p.R370*|AHCTF1_ENST00000391829.2_Nonsense_Mutation_p.R361*			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	361	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CCATGAGATCGAAATTTCTCT	0.418000													47	135					0	0	0.000781405	0	0
PDE4C	5143	broad.mit.edu	37	19	18331715	18331715	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:18331715G>T	ENST00000355502.3	-	9	1435	c.564C>A	c.(562-564)aaC>aaA	p.N188K	PDE4C_ENST00000539010.1_Intron|PDE4C_ENST00000447275.2_Missense_Mutation_p.N82K|PDE4C_ENST00000262805.11_Missense_Mutation_p.N156K|PDE4C_ENST00000594617.2_Missense_Mutation_p.N188K|PDE4C_ENST00000594465.2_Missense_Mutation_p.N188K			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	188					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	TGGATGAAGGGTTTCCGACGG	0.652000													4	18					0.000602214	0.00335428	0.000602214	1	0
ZSWIM3	140831	broad.mit.edu	37	20	44506200	44506200	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr20:44506200C>T	ENST00000255152.2	+	2	1212	c.1003C>T	c.(1003-1005)Ctg>Ttg	p.L335L	ZSWIM3_ENST00000454862.2_Silent_p.L329L	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	335							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				GAAGGAAGCCCTGCGGGAGGC	0.517000													32	112					0	0	0.000692331	0	0
KCNG4	93107	broad.mit.edu	37	16	84256488	84256488	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr16:84256488C>T	ENST00000308251.4	-	3	963	c.895G>A	c.(895-897)Gac>Aac	p.D299N		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	299						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GCCAGGATGTCGATGATGTTC	0.627000													6	12					0	0	0.000442599	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2307183	2307183	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr4:2307183G>A	ENST00000290974.2	-	8	1223	c.884C>T	c.(883-885)cCc>cTc	p.P295L	ZFYVE28_ENST00000511071.1_Missense_Mutation_p.P265L|RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.P225L	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	295					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						TGCGCGGATGGGGAACTCCAC	0.627000													8	39					0	0	0.000274275	0	0
ZNF286B	729288	broad.mit.edu	37	17	18565293	18565293	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:18565293G>A	ENST00000545289.1	-	5	1776	c.1526C>T	c.(1525-1527)tCt>tTt	p.S509F		NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(1)	2						TCTGATGAGAGATGAACTGCA	0.353000													11	43					0	0	0.000308642	0	0
TMEM130	222865	broad.mit.edu	37	7	98445738	98445738	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:98445738G>A	ENST00000450876.1	-	8	2276	c.961C>T	c.(961-963)Cgt>Tgt	p.R321C	TMEM130_ENST00000416379.2_Missense_Mutation_p.R417C|TMEM130_ENST00000339375.4_Missense_Mutation_p.R405C|TMEM130_ENST00000546258.1_Missense_Mutation_p.R386C|TMEM130_ENST00000345589.4_Missense_Mutation_p.R303C			Q8N3G9	TM130_HUMAN	transmembrane protein 130	417						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGGTTCTCACGAACAATTTCC	0.567000													17	53					0	0	0.00121646	0	0
ZNF385B	151126	broad.mit.edu	37	2	180311347	180311347	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:180311347A>G	ENST00000410066.1	-	7	1424	c.821T>C	c.(820-822)gTt>gCt	p.V274A	ZNF385B_ENST00000409343.1_Missense_Mutation_p.V198A|ZNF385B_ENST00000336917.5_Missense_Mutation_p.V172A|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409692.1_Missense_Mutation_p.V172A	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	274						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			TTCTGATTCAACAACAGTACC	0.473000													38	53					0	0	0.00111076	0	0
KCNT1	57582	broad.mit.edu	37	9	138676458	138676458	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr9:138676458C>T	ENST00000298480.5	+	26	3095	c.3021C>T	c.(3019-3021)ctC>ctT	p.L1007L	KCNT1_ENST00000491806.2_Silent_p.L974L|KCNT1_ENST00000488444.2_Silent_p.L988L|KCNT1_ENST00000487664.1_Silent_p.L962L|KCNT1_ENST00000490355.2_Silent_p.L986L|KCNT1_ENST00000371757.2_Silent_p.L1007L|KCNT1_ENST00000263604.3_Silent_p.L988L|KCNT1_ENST00000486577.2_Silent_p.L966L			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	1007						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CGGGGTACCTCTGTGCCGTAA	0.677000													13	6					0	0	0.00136819	0	0
CD1E	913	broad.mit.edu	37	1	158325195	158325195	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:158325195C>T	ENST00000444681.2	+	2	457	c.164C>T	c.(163-165)tCc>tTc	p.S55F	CD1E_ENST00000434258.1_Missense_Mutation_p.S152F|CD1E_ENST00000368160.3_Missense_Mutation_p.S154F|CD1E_ENST00000368161.3_Missense_Mutation_p.S154F|CD1E_ENST00000368167.3_Missense_Mutation_p.S154F|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.S154F|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368157.1_Intron	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	154					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CAAGGAATTTCCTGGGAGCCA	0.448000													21	114					0	0	0.000229342	0	0
SLC13A3	64849	broad.mit.edu	37	20	45242182	45242182	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr20:45242182G>A	ENST00000279027.4	-	2	312	c.294C>T	c.(292-294)atC>atT	p.I98I	SLC13A3_ENST00000339636.3_Silent_p.I98I|SLC13A3_ENST00000396360.1_Silent_p.I51I|SLC13A3_ENST00000290317.5_Silent_p.I51I|SLC13A3_ENST00000417157.2_Silent_p.I51I|SLC13A3_ENST00000413164.2_Silent_p.I98I|SLC13A3_ENST00000495082.1_Silent_p.I51I|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000372121.1_Silent_p.I98I|SLC13A3_ENST00000472148.1_Silent_p.I51I	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	98						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	CGCTGGCCATGATCAGCCCAC	0.577000													8	28					0	0	0.000157383	0	0
ENOX1	55068	broad.mit.edu	37	13	43918689	43918689	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr13:43918689C>T	ENST00000261488.6	-	9	1598	c.1021G>A	c.(1021-1023)Ggg>Agg	p.G341R	ENOX1_ENST00000540032.1_Missense_Mutation_p.G154R|ENOX1_ENST00000412891.1_Missense_Mutation_p.G341R	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	341					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GTGAGAATCCCAGTTAAGGCA	0.408000													31	45					0	0	0.000409698	0	0
CACNA1S	779	broad.mit.edu	37	1	201061138	201061138	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:201061138C>T	ENST00000362061.3	-	4	729	c.503G>A	c.(502-504)cGa>cAa	p.R168Q	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R168Q	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	168					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TCTGAGCACTCGGAAGGCTCT	0.602000													10	34					0	0	0.000442599	0	0
CDH23	64072	broad.mit.edu	37	10	73376977	73376977	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:73376977G>A	ENST00000224721.6	+	10	981	c.976G>A	c.(976-978)Gat>Aat	p.D326N	CDH23_ENST00000299366.7_Missense_Mutation_p.D366N|CDH23_ENST00000461841.3_Missense_Mutation_p.D366N|CDH23_ENST00000398809.4_Missense_Mutation_p.D321N|CDH23_ENST00000398842.3_Missense_Mutation_p.D321N	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	321	Cadherin 3.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GGAGCTGAACGATGACCGCAC	0.522000													5	16					0	0	0.000602214	0	0
UGT3A2	167127	broad.mit.edu	37	5	36037996	36037996	+	Nonsense_Mutation	SNP	G	G	A	rs147315371		TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr5:36037996G>A	ENST00000282507.3	-	6	1299	c.1198C>T	c.(1198-1200)Cga>Tga	p.R400*	UGT3A2_ENST00000513300.1_Nonsense_Mutation_p.R366*|UGT3A2_ENST00000545528.1_Nonsense_Mutation_p.R98*	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	400						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCTTCTACTCGGACCATGTTT	0.478000													20	91					0	0	0.000958276	0	0
RIPK3	11035	broad.mit.edu	37	14	24806441	24806441	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr14:24806441C>T	ENST00000216274.5	-	8	1344	c.1126G>A	c.(1126-1128)Gag>Aag	p.E376K	RP11-934B9.3_ENST00000555591.1_Missense_Mutation_p.E50K	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	376					apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		ACCTGCTCCTCTTGTGCCCTG	0.522000													43	82					0	0	0.000781405	0	0
MAGEE1	57692	broad.mit.edu	37	X	75648632	75648632	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chrX:75648632C>T	ENST00000361470.2	+	1	587	c.309C>T	c.(307-309)tcC>tcT	p.S103S		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	103						dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CTGGCACCTCCGTGCTGCCCA	0.682000													10	1					0	0	0.00136819	0	0
MUC16	94025	broad.mit.edu	37	19	9076695	9076695	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:9076695G>A	ENST00000397910.4	-	3	10954	c.10751C>T	c.(10750-10752)tCt>tTt	p.S3584F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3585	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			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						AGCTGTGGAAGACCAGGTGGA	0.493000													21	68					0	0	0.000229342	0	0
PLEC	5339	broad.mit.edu	37	8	144997805	144997805	+	Missense_Mutation	SNP	C	C	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr8:144997805C>A	ENST00000322810.4	-	31	6872	c.6703G>T	c.(6703-6705)Gtg>Ttg	p.V2235L	PLEC_ENST00000356346.3_Missense_Mutation_p.V2084L|PLEC_ENST00000436759.2_Missense_Mutation_p.V2125L|PLEC_ENST00000398774.2_Missense_Mutation_p.V2066L|PLEC_ENST00000354958.2_Missense_Mutation_p.V2076L|PLEC_ENST00000354589.3_Missense_Mutation_p.V2098L|PLEC_ENST00000357649.2_Missense_Mutation_p.V2102L|PLEC_ENST00000345136.3_Missense_Mutation_p.V2098L|PLEC_ENST00000527096.1_Missense_Mutation_p.V2121L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2235	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCCGCCTGCACCCGGGCCTCC	0.756000													5	15					0.00116845	0.00648841	0.00116845	1	0
MUC16	94025	broad.mit.edu	37	19	9060353	9060353	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:9060353C>T	ENST00000397910.4	-	3	27296	c.27093G>A	c.(27091-27093)acG>acA	p.T9031T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9033	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			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						AGTCCTCAATCGTGGCACTAG	0.542000													26	28					0	0	0.000586117	0	0
ARMC3	219681	broad.mit.edu	37	10	23250819	23250819	+	Nonsense_Mutation	SNP	C	C	T	rs78062147		TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:23250819C>T	ENST00000298032.5	+	7	628	c.544C>T	c.(544-546)Cag>Tag	p.Q182*	ARMC3_ENST00000376528.4_Intron|ARMC3_ENST00000409983.3_Nonsense_Mutation_p.Q182*|ARMC3_ENST00000409049.3_Nonsense_Mutation_p.Q182*	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	182							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GCAGGATTTTCAGTGTCGAGC	0.333000													10	22					0	0	0.00136819	0	0
OR2M7	391196	broad.mit.edu	37	1	248487313	248487313	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:248487313G>A	ENST00000317965.2	-	1	586	c.558C>T	c.(556-558)atC>atT	p.I186I		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGCATGAGAGGATTAGTAGGG	0.423000													39	205					0	0	0.00128727	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871441	51871441	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr20:51871441G>A	ENST00000371497.5	+	2	2331	c.1444G>A	c.(1444-1446)Gag>Aag	p.E482K	TSHZ2_ENST00000603338.2_Missense_Mutation_p.E479K|TSHZ2_ENST00000329613.6_Missense_Mutation_p.E479K	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	482					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CGTGAAAAGCGAGGACTATGA	0.428000													36	99					0	0	0.000814825	0	0
KIF6	221458	broad.mit.edu	37	6	39602662	39602662	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:39602662C>T	ENST00000287152.7	-	5	566	c.472G>A	c.(472-474)Gat>Aat	p.D158N	KIF6_ENST00000373215.3_Missense_Mutation_p.D158N|KIF6_ENST00000538893.1_Missense_Mutation_p.D158N|KIF6_ENST00000373216.3_Missense_Mutation_p.D158N	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	158	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TGTCTTGGATCCAAAAGATCA	0.358000													30	50					0	0	0.00178596	0	0
SEMA6C	10500	broad.mit.edu	37	1	151109048	151109048	+	Missense_Mutation	SNP	C	C	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:151109048C>A	ENST00000341697.3	-	12	2673	c.982G>T	c.(982-984)Ggc>Tgc	p.G328C				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	328	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ACGGCAGAGCCAGGGATGCTG	0.552000													23	164					1.64293e-13	9.37905e-13	0.00047179	1	0
ZDBF2	57683	broad.mit.edu	37	2	207174680	207174680	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:207174680G>A	ENST00000374423.3	+	5	5814	c.5428G>A	c.(5428-5430)Gat>Aat	p.D1810N		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1810							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TGTCATAGAGGATAATCCTGA	0.393000													34	54					0	0	0.00058488	0	0
SEZ6L	23544	broad.mit.edu	37	22	26707860	26707860	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr22:26707860G>A	ENST00000529632.2	+	8	2004	c.1808G>A	c.(1807-1809)gGc>gAc	p.G603D	SEZ6L_ENST00000403121.1_Missense_Mutation_p.G376D|SEZ6L_ENST00000343706.4_Missense_Mutation_p.G603D|SEZ6L_ENST00000404234.3_Missense_Mutation_p.G603D|SEZ6L_ENST00000360929.3_Missense_Mutation_p.G603D|SEZ6L_ENST00000248933.6_Missense_Mutation_p.G603D|SEZ6L_ENST00000402979.1_Missense_Mutation_p.G376D	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	603	Sushi 2.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CTGGAGCAGGGCCCGGCCATC	0.577000													58	158					0	0	0.000781405	0	0
GPR116	221395	broad.mit.edu	37	6	46874483	46874483	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:46874483C>T	ENST00000283296.7	-	2	305	c.17G>A	c.(16-18)aGa>aAa	p.R6K	GPR116_ENST00000456426.2_Missense_Mutation_p.R6K|GPR116_ENST00000362015.4_Missense_Mutation_p.R6K|RP3-365O12.2_ENST00000451135.1_RNA|GPR116_ENST00000265417.7_Missense_Mutation_p.R6K	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	6					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R6I(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CAAAGTGGTTCTCCTTGGGGA	0.358000													38	39					0	0	0.00111076	0	0
XRN2	22803	broad.mit.edu	37	20	21349172	21349172	+	Missense_Mutation	SNP	G	G	C			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr20:21349172G>C	ENST00000377191.3	+	27	2623	c.2528G>C	c.(2527-2529)gGa>gCa	p.G843A	XRN2_ENST00000539513.1_Missense_Mutation_p.G789A|XRN2_ENST00000430571.2_Missense_Mutation_p.G767A	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	843					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						ACTTACCAGGGAAACTTATAC	0.393000													41	113					0	0	0.000509022	0	0
TRIP12	9320	broad.mit.edu	37	2	230655878	230655878	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:230655878G>A	ENST00000283943.5	-	29	4458	c.4280C>T	c.(4279-4281)tCc>tTc	p.S1427F	TRIP12_ENST00000389045.3_Missense_Mutation_p.S1157F|TRIP12_ENST00000389044.4_Missense_Mutation_p.S1475F	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1427					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		ATTTCTAGGGGAAGTTTTCGT	0.398000													40	73					0	0	0.000589545	0	0
JPH3	57338	broad.mit.edu	37	16	87677904	87677904	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr16:87677904C>T	ENST00000284262.2	+	2	665	c.423C>T	c.(421-423)ggC>ggT	p.G141G		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	141	Gly-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		TGCGCCAGGGCTACGGCGTCC	0.677000													26	32					0	0	0.00127121	0	0
C15orf27	123591	broad.mit.edu	37	15	76494549	76494549	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr15:76494549C>T	ENST00000388942.3	+	10	1241	c.965C>T	c.(964-966)aCg>aTg	p.T322M		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	322						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						GTAGAAGCCACGATGAAGGAC	0.532000													35	32					0	0	0.000374591	0	0
SFTPD	6441	broad.mit.edu	37	10	81697824	81697824	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:81697824G>A	ENST00000372292.3	-	8	952	c.912C>T	c.(910-912)gtC>gtT	p.V304V		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	304	C-type lectin.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			TCTTAGCTACGACCAGCTGTT	0.557000													27	66					0	0	0.000878237	0	0
RAB30	27314	broad.mit.edu	37	11	82693213	82693213	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:82693213G>A	ENST00000533486.1	-	6	890	c.606C>T	c.(604-606)ttC>ttT	p.F202F	RP11-659G9.3_ENST00000527550.1_RNA|RAB30_ENST00000260056.2_Silent_p.F202F|RAB30_ENST00000527633.1_Silent_p.F202F|RAB30_ENST00000534141.1_3'UTR	NM_014488.3	NP_055303.2	Q15771	RAB30_HUMAN	RAB30, member RAS oncogene family	202					protein transport|small GTPase mediated signal transduction	Golgi stack|plasma membrane	GTP binding|GTPase activity			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						GCCTTTAGTTGAAATTACAAC	0.493000													17	61					0	0	0.000958276	0	0
TRANK1	9881	broad.mit.edu	37	3	36898686	36898686	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:36898686G>A	ENST00000429976.2	-	12	2642	c.2395C>T	c.(2395-2397)Ctg>Ttg	p.L799L	TRANK1_ENST00000428977.2_Silent_p.L249L|TRANK1_ENST00000301807.6_Silent_p.L249L			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	799					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AGCTTCTTCAGCATTTCTGAA	0.512000													59	120					0	0	0.000781405	0	0
ITGAL	3683	broad.mit.edu	37	16	30507776	30507776	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr16:30507776T>A	ENST00000356798.6	+	15	1901	c.1721T>A	c.(1720-1722)gTg>gAg	p.V574E	ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Missense_Mutation_p.V491E	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	574					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GGGACCCAAGTGCTCTCAGGA	0.572000													14	54					0	0	0.00121646	0	0
MECOM	2122	broad.mit.edu	37	3	169099040	169099040	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:169099040C>T	ENST00000494292.1	-	2	407	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	MECOM_ENST00000485957.1_5'UTR	NM_004991.3	NP_004982.2	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	104							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CCAAACTTTTCACCTACTTCG	0.433000													22	56					0	0	0.000375601	0	0
ATP2B4	493	broad.mit.edu	37	1	203669940	203669940	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:203669940G>A	ENST00000357681.5	+	6	1913	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K	ATP2B4_ENST00000341360.2_Missense_Mutation_p.E264K|ATP2B4_ENST00000367218.3_Missense_Mutation_p.E264K|ATP2B4_ENST00000367219.3_Missense_Mutation_p.E264K|ATP2B4_ENST00000391954.2_Missense_Mutation_p.E264K	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	264					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CCATGTCATGGAAGGTTCTGG	0.458000													6	66					0	0	8.12818e-05	0	0
KRT85	3891	broad.mit.edu	37	12	52760939	52760939	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:52760939G>A	ENST00000257901.3	-	1	326	c.251C>T	c.(250-252)tCc>tTc	p.S84F		NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	84	Head.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CACGCCCCCGGAGCGGTAGCC	0.687000													24	44					0	0	0.000720815	0	0
DNAH5	1767	broad.mit.edu	37	5	13714555	13714555	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr5:13714555C>T	ENST00000265104.4	-	75	13188	c.13084G>A	c.(13084-13086)Gat>Aat	p.D4362N		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4362					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCCAGCATATCATCAGCCAGC	0.572000									Kartagener syndrome				30	45					0	0	0.000692331	0	0
THAP5	168451	broad.mit.edu	37	7	108205132	108205132	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:108205132G>A	ENST00000415914.3	-	3	844	c.691C>T	c.(691-693)Cat>Tat	p.H231Y	THAP5_ENST00000493722.1_5'UTR|THAP5_ENST00000438865.1_3'UTR|THAP5_ENST00000313516.5_Missense_Mutation_p.H189Y	NM_001130475.1	NP_001123947.1	Q7Z6K1	THAP5_HUMAN	THAP domain containing 5	231					cell cycle|negative regulation of cell cycle	nucleus	DNA binding|metal ion binding|protease binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						TTAGCAAGATGACTGGTAGTT	0.308000													40	57					0	0	0.00170553	0	0
OR5AU1	390445	broad.mit.edu	37	14	21623513	21623513	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr14:21623513G>A	ENST00000304418.3	-	1	709	c.672C>T	c.(670-672)gtC>gtT	p.V224V		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		AGTGAGTGACGACATGAGCAC	0.488000													23	29					0	0	0.000720815	0	0
CHD4	1108	broad.mit.edu	37	12	6690874	6690874	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:6690874G>A	ENST00000309577.6	-	30	4869	c.4706C>T	c.(4705-4707)cCt>cTt	p.P1569L	CHD4_ENST00000357008.2_Missense_Mutation_p.P1541L|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544484.1_Missense_Mutation_p.P1566L|CHD4_ENST00000544040.1_Missense_Mutation_p.P1534L			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1541					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GGAGGGTGTAGGAGTTTTTGG	0.542000													65	54					0	0	0.000781405	0	0
PLCG2	5336	broad.mit.edu	37	16	81819628	81819628	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr16:81819628G>A	ENST00000359376.3	+	2	248	c.34G>A	c.(34-36)Gaa>Aaa	p.E12K		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	12					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TTCCCTTGCGGAATATGAGAA	0.552000													18	41					0	0	0.000566183	0	0
FAM194A	131831	broad.mit.edu	37	3	150403780	150403780	+	Silent	SNP	C	C	T	rs145250976		TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:150403780C>T	ENST00000295910.6	-	5	691	c.639G>A	c.(637-639)tcG>tcA	p.S213S	FAM194A_ENST00000491361.1_Silent_p.S67S	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	213										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TATTTAGTTTCGACTCTTCTG	0.308000													14	63					0	0	0.000566183	0	0
SORL1	6653	broad.mit.edu	37	11	121474953	121474953	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:121474953G>A	ENST00000260197.7	+	33	4700	c.4571G>A	c.(4570-4572)gGg>gAg	p.G1524E	SORL1_ENST00000534286.1_Missense_Mutation_p.G434E|SORL1_ENST00000525532.1_Missense_Mutation_p.G468E|SORL1_ENST00000527934.1_Missense_Mutation_p.G139E|SORL1_ENST00000532694.1_Missense_Mutation_p.G370E	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1524	LDL-receptor class A 11.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TGCGAGGACGGGGAGGCCTGC	0.617000													32	95					0	0	0.00148497	0	0
BCDIN3D	144233	broad.mit.edu	37	12	50232547	50232547	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:50232547G>A	ENST00000333924.4	-	2	527	c.486C>T	c.(484-486)ttC>ttT	p.F162F	BCDIN3D-AS1_ENST00000548872.1_RNA|BCDIN3D-AS1_ENST00000549124.1_RNA	NM_181708.2	NP_859059.1	Q7Z5W3	BN3D2_HUMAN	BCDIN3 domain containing	162	Bin3-type SAM.						methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						TTGACATGCAGAAGCCAATGT	0.468000											OREG0021805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	54					0	0	0.000219431	0	0
CILP	8483	broad.mit.edu	37	15	65490866	65490866	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr15:65490866G>A	ENST00000261883.4	-	9	1924	c.1758C>T	c.(1756-1758)atC>atT	p.I586I		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	586					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CCAGGGGGATGATGTTGGTCT	0.507000													9	44					0	0	0.000442599	0	0
DAPP1	27071	broad.mit.edu	37	4	100756893	100756893	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr4:100756893T>C	ENST00000296414.7	+	2	296	c.215T>C	c.(214-216)cTc>cCc	p.L72P	DAPP1_ENST00000512369.1_Missense_Mutation_p.L72P			Q9UN19	DAPP1_HUMAN	dual adaptor of phosphotyrosine and 3-phosphoinositides	72	SH2.				signal transduction	cytoplasm|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity			endometrium(1)|kidney(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		CTGTACTCTCTCTCTGTGAGG	0.507000													11	34					0	0	0.00136819	0	0
CASP5	838	broad.mit.edu	37	11	104866478	104866478	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:104866478C>T	ENST00000393141.2	-	9	1368	c.1337G>A	c.(1336-1338)gGc>gAc	p.G446D	CASP5_ENST00000531367.1_Missense_Mutation_p.G291D|CASP5_ENST00000393139.2_3'UTR|CASP5_ENST00000260315.3_Missense_Mutation_p.G433D|CASP5_ENST00000526056.1_Missense_Mutation_p.G446D|CASP5_ENST00000444749.2_Missense_Mutation_p.G375D|CASP5_ENST00000418434.1_Missense_Mutation_p.G291D	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	433					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TTTTCAATTGCCAGGAAAGAG	0.403000													25	41					0	0	0.00047179	0	0
NISCH	11188	broad.mit.edu	37	3	52524839	52524839	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:52524839C>T	ENST00000345716.4	+	19	3866	c.3732C>T	c.(3730-3732)ttC>ttT	p.F1244F	NISCH_ENST00000479054.1_Silent_p.F1244F	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	1244					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		ACCAGCATTTCCGGCTGACGG	0.542000													17	45					0	0	0.000295444	0	0
DMXL2	23312	broad.mit.edu	37	15	51828531	51828531	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr15:51828531G>A	ENST00000251076.5	-	12	2433	c.2146C>T	c.(2146-2148)Cat>Tat	p.H716Y	DMXL2_ENST00000449909.3_Missense_Mutation_p.H716Y|DMXL2_ENST00000543779.2_Missense_Mutation_p.H716Y	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	716						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TTTGGGTCATGAAATGTACGA	0.393000													81	75					0	0	0.000781405	0	0
WNK3	65267	broad.mit.edu	37	X	54263821	54263821	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chrX:54263821G>A	ENST00000354646.2	-	20	4616	c.4178C>T	c.(4177-4179)tCg>tTg	p.S1393L	WNK3_ENST00000375169.3_Missense_Mutation_p.S1346L|WNK3_ENST00000375159.2_Missense_Mutation_p.S1393L	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1346					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	p.S1393*(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						ATAAGAAAACGAAGTTTTTGG	0.378000													50	8					0	0	0.000781405	0	0
EPB41L4B	54566	broad.mit.edu	37	9	111936842	111936842	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr9:111936842C>T	ENST00000374566.3	-	26	3212	c.2695G>A	c.(2695-2697)Gaa>Aaa	p.E899K		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	899				E -> R (in Ref. 1; AAG43366).		cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	p.E899K(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTTCACAGTTCGGTCATCAAC	0.458000													11	40					0	0	0.000978159	0	0
SCN9A	6335	broad.mit.edu	37	2	167108350	167108350	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:167108350G>T	ENST00000375387.4	-	18	3740	c.3400C>A	c.(3400-3402)Cct>Act	p.P1134T	SCN9A_ENST00000303354.6_Missense_Mutation_p.P1134T|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.P1122T|SCN9A_ENST00000409435.1_Missense_Mutation_p.P1133T			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1133			L -> F.			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CCAGGCAAAGGGTTATCAACT	0.448000													16	19					6.72482e-11	3.83304e-10	0.000308642	1	0
LILRB5	10990	broad.mit.edu	37	19	54759989	54759989	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:54759989C>T	ENST00000450632.1	-	4	622	c.545G>A	c.(544-546)tGg>tAg	p.W182*	LILRB5_ENST00000449561.2_Nonsense_Mutation_p.W191*|LILRB5_ENST00000316219.5_Nonsense_Mutation_p.W191*|LILRB5_ENST00000345866.6_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	191	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCTGAACCTCCACCTGCAGCT	0.567000													26	25					0	0	0.000720815	0	0
APLP1	333	broad.mit.edu	37	19	36369521	36369521	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:36369521G>A	ENST00000221891.4	+	14	1807	c.1615G>A	c.(1615-1617)Gag>Aag	p.E539K	APLP1_ENST00000537454.2_Missense_Mutation_p.E499K|APLP1_ENST00000586861.1_Missense_Mutation_p.E532K	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	538					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCTGAGAAAGAGAAGATGAA	0.488000													5	32					0	0	0.00116845	0	0
SCNN1G	6340	broad.mit.edu	37	16	23226713	23226713	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr16:23226713C>T	ENST00000300061.2	+	13	2016	c.1873C>T	c.(1873-1875)Ccc>Tcc	p.P625S		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	625					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	CACACCGCCCCCCAAATACAA	0.552000													15	52					0	0	0.000422831	0	0
WWC1	23286	broad.mit.edu	37	5	167850763	167850763	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr5:167850763C>T	ENST00000265293.4	+	11	2002	c.1500C>T	c.(1498-1500)acC>acT	p.T500T	WWC1_ENST00000521089.1_Silent_p.T500T	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	500					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GCATCACCACCATCCACGAGG	0.642000													32	20					0	0	0.001512	0	0
ANKS1B	56899	broad.mit.edu	37	12	100200442	100200442	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:100200442G>A	ENST00000547776.2	-	4	408	c.409C>T	c.(409-411)Caa>Taa	p.Q137*	ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Nonsense_Mutation_p.Q137*	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	137						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TGTCCATATTGAGCTGCACAG	0.383000													15	36					0	0	0.000958276	0	0
ULBP3	79465	broad.mit.edu	37	6	150386606	150386606	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:150386606C>T	ENST00000367339.1	-	3	584	c.556G>A	c.(556-558)Gtc>Atc	p.V186I	ULBP3_ENST00000438272.2_Missense_Mutation_p.V186I			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3	186	MHC class I alpha-2 like.				antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		CTCATTGAGACCATCTTGAAG	0.527000													15	47					0	0	0.000308642	0	0
CBX8	57332	broad.mit.edu	37	17	77768995	77768995	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:77768995G>A	ENST00000269385.4	-	5	726	c.609C>T	c.(607-609)ccC>ccT	p.P203P		NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	203					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GCTCCTTCCGGGGCTTGGGGC	0.672000													8	24					0	0	0.000274275	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54919610	54919610	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:54919610C>T	ENST00000474759.1	+	23	2101	c.2053C>T	c.(2053-2055)Cag>Tag	p.Q685*	CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000490478.1_Nonsense_Mutation_p.Q591*|CACNA2D3_ENST00000415676.2_Nonsense_Mutation_p.Q685*|CACNA2D3_ENST00000288197.5_Nonsense_Mutation_p.Q685*	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	685						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		ACCTCTGCTCCAGTGTGAGTA	0.473000													6	10					0	0	8.12818e-05	0	0
FLRT3	23767	broad.mit.edu	37	20	14306629	14306629	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr20:14306629G>A	ENST00000378053.3	-	2	1780	c.1524C>T	c.(1522-1524)aaC>aaT	p.N508N	MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Silent_p.N508N|MACROD2_ENST00000217246.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	508					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		TGGTTGTAGGGTTGTACATTC	0.458000													42	70					0	0	0.000509022	0	0
DOCK4	9732	broad.mit.edu	37	7	111368493	111368493	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:111368493G>A	ENST00000428084.1	-	53	6037	c.5765C>T	c.(5764-5766)cCc>cTc	p.P1922L	DOCK4_ENST00000437633.1_Missense_Mutation_p.P1913L|DOCK4_ENST00000494651.2_Missense_Mutation_p.P796L			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1913	Pro-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TAGCGGGACGGGGCGCCGCAG	0.716000													34	34					0	0	0.00128727	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475705	140475705	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr5:140475705C>T	ENST00000194155.4	+	1	1479	c.1331C>T	c.(1330-1332)tCc>tTc	p.S444F		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		444	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGCTGGTCTCCGACGTCAAT	0.607000													43	36					0	0	0.000680045	0	0
ATMIN	23300	broad.mit.edu	37	16	81077419	81077419	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr16:81077419C>G	ENST00000566488.1	+	3	1811	c.848C>G	c.(847-849)tCt>tGt	p.S283C	ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000299575.4_Missense_Mutation_p.S439C|ATMIN_ENST00000564241.1_Missense_Mutation_p.S283C			O43313	ATMIN_HUMAN	ATM interactor	439	Required for formation of RAD51 foci.				response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						TCTGTGTCGTCTTGTTCTCAA	0.413000													27	67					0	0	0.000878237	0	0
RUFY4	285180	broad.mit.edu	37	2	218947953	218947953	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:218947953G>A	ENST00000374155.3	+	10	1946	c.1536G>A	c.(1534-1536)atG>atA	p.M512I	RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000344321.7_Missense_Mutation_p.M492I			Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	492							metal ion binding			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TCCAGGCCATGAAGAGGCGGG	0.597000													30	34					0	0	0.00170553	0	0
GPR78	27201	broad.mit.edu	37	4	8582880	8582880	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr4:8582880G>A	ENST00000382487.4	+	1	588	c.171G>A	c.(169-171)gcG>gcA	p.A57A	GPR78_ENST00000509216.1_Intron	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	57					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						TGCTGGCGGCGCTGGACATGC	0.662000													6	23					0	0	0.00116845	0	0
SLC25A46	91137	broad.mit.edu	37	5	110092443	110092443	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr5:110092443T>A	ENST00000355943.3	+	7	788	c.662T>A	c.(661-663)cTg>cAg	p.L221Q	SLC25A46_ENST00000509442.2_Missense_Mutation_p.L130Q|SLC25A46_ENST00000509432.1_Missense_Mutation_p.L8Q|SLC25A46_ENST00000447245.2_Missense_Mutation_p.L221Q|SLC25A46_ENST00000504098.1_Missense_Mutation_p.L75Q|SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000513807.1_Missense_Mutation_p.L59Q	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	221					transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		TCAGCAAGTCTGATTGAAACA	0.274000													10	43					0	0	0.000151284	0	0
IGSF22	283284	broad.mit.edu	37	11	18741335	18741335	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:18741335C>T	ENST00000513874.1	-	7	763	c.624G>A	c.(622-624)atG>atA	p.M208I	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	208	Lys-rich.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						AACCATACTCCATGCACACCT	0.507000													71	94					0	0	0.000781405	0	0
VWF	7450	broad.mit.edu	37	12	6230478	6230478	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:6230478C>G	ENST00000261405.5	-	3	336	c.82G>C	c.(82-84)Ggc>Cgc	p.G28R	VWF_ENST00000572068.1_Missense_Mutation_p.G65R	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	28					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GATGACCTGCCGCGAGTTCCT	0.572000													15	19					0	0	0.00074312	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688745	26688745	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr22:26688745C>T	ENST00000529632.2	+	2	664	c.468C>T	c.(466-468)ctC>ctT	p.L156L	SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000343706.4_Silent_p.L156L|SEZ6L_ENST00000404234.3_Silent_p.L156L|SEZ6L_ENST00000360929.3_Silent_p.L156L|SEZ6L_ENST00000248933.6_Silent_p.L156L|SEZ6L_ENST00000402979.1_5'UTR	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	156						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GCCTAGATCTCCTCTCCTCCT	0.667000													12	33					0	0	0.00136819	0	0
C1orf227	149643	broad.mit.edu	37	1	213009387	213009387	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:213009387C>T	ENST00000332912.3	-	2	212	c.105G>A	c.(103-105)gtG>gtA	p.V35V		NM_001024601.2	NP_001019772.1	Q537H7	CA227_HUMAN	chromosome 1 open reading frame 227	35										kidney(1)|large_intestine(1)|lung(1)	3						TGCTTCGTTCCACCAAGCAGT	0.418000													30	150					0	0	0.000339439	0	0
C20orf26	26074	broad.mit.edu	37	20	20056175	20056175	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr20:20056175C>T	ENST00000245957.5	+	6	558	c.482C>T	c.(481-483)cCg>cTg	p.P161L	C20orf26_ENST00000377306.1_Missense_Mutation_p.P161L|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.P161L|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	161										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GGGAACATCCCGTGTCTGACG	0.428000													60	115					0	0	0.000781405	0	0
SLC26A9	115019	broad.mit.edu	37	1	205895698	205895698	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:205895698G>A	ENST00000367135.3	-	12	1467	c.1354C>T	c.(1354-1356)Ccc>Tcc	p.P452S	SLC26A9_ENST00000367134.2_Missense_Mutation_p.P452S|SLC26A9_ENST00000340781.4_Missense_Mutation_p.P452S	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	452						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			AGGTAGTAGGGGTCGGTGAGT	0.582000													30	67					0	0	0.00111076	0	0
CNPPD1	27013	broad.mit.edu	37	2	220038173	220038173	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:220038173C>T	ENST00000409789.1	-	8	1016	c.589G>A	c.(589-591)Gga>Aga	p.G197R	CNPPD1_ENST00000360507.5_Missense_Mutation_p.G197R			Q9BV87	CNPD1_HUMAN	cyclin Pas1/PHO80 domain containing 1	197					regulation of cyclin-dependent protein kinase activity	integral to membrane	protein kinase binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						CGCCACCGTCCCTGCTGCTCA	0.617000													16	24					0	0	0.000308642	0	0
PRKCQ	5588	broad.mit.edu	37	10	6528045	6528045	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:6528045G>A	ENST00000263125.5	-	9	951	c.852C>T	c.(850-852)aaC>aaT	p.N284N	PRKCQ_ENST00000539722.1_Silent_p.N159N|PRKCQ_ENST00000397176.2_Silent_p.N284N	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	284					axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						TTAGCTTCTGGTTTATGCCAC	0.527000													10	40					0	0	0.000673444	0	0
PSG9	5678	broad.mit.edu	37	19	43762487	43762487	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:43762487C>T	ENST00000244293.7	-	4	897	c.831G>A	c.(829-831)ggG>ggA	p.G277G	PSG9_ENST00000596730.1_Silent_p.G184G|PSG9_ENST00000291752.5_Silent_p.G184G|PSG9_ENST00000270077.3_Silent_p.G370G|PSG9_ENST00000418820.2_Silent_p.G277G|PSG9_ENST00000443718.3_Silent_p.G277G|PSG9_ENST00000593948.1_Silent_p.G277G			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	277	Ig-like C2-type 2.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GCTGAAACTTCCCATTAATTG	0.443000													91	128					0	0	0.000781405	0	0
GPR65	8477	broad.mit.edu	37	14	88478080	88478080	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr14:88478080G>A	ENST00000267549.3	+	2	1447	c.889G>A	c.(889-891)Gga>Aga	p.G297R	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	297					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						AACCGAAACAGGAAGATATGA	0.348000													26	40					0	0	0.000878237	0	0
DNAJC22	79962	broad.mit.edu	37	12	49742682	49742682	+	Silent	SNP	T	T	C			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:49742682T>C	ENST00000549441.2	+	3	1231	c.27T>C	c.(25-27)taT>taC	p.Y9Y	DNAJC22_ENST00000395069.3_Silent_p.Y9Y			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	9					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						TGGTGACCTATGCCCTCTGGG	0.642000													13	51					0	0	0.000422831	0	0
CYP2C19	1557	broad.mit.edu	37	10	96612527	96612527	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:96612527G>A	ENST00000371321.3	+	9	1411	c.1329G>A	c.(1327-1329)atG>atA	p.M443I	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	443					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TGGCCCGCATGGAGCTGTTTT	0.428000													8	52					0	0	0.000442599	0	0
ATP10B	23120	broad.mit.edu	37	5	160039886	160039886	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr5:160039886C>T	ENST00000327245.5	-	18	3546	c.2700G>A	c.(2698-2700)acG>acA	p.T900T		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	900					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAGTGGCAATCGTATCTGGAA	0.507000													20	11					0	0	0.000229342	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142480020	142480020	+	RNA	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:142480020C>T	ENST00000603901.1	+	0	152					NR_001296.3																						TGCGGTGGCTCCCTCATCAGC	0.562000													31	152					0	0	0.00058488	0	0
LIN28B	389421	broad.mit.edu	37	6	105526589	105526589	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:105526589G>A	ENST00000345080.4	+	4	887	c.684G>A	c.(682-684)acG>acA	p.T228T		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	228					miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				CTTCCTCCACGAAGTCATCTA	0.488000													8	26					0	0	0.000673444	0	0
PIWIL4	143689	broad.mit.edu	37	11	94318641	94318641	+	Silent	SNP	T	T	C			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:94318641T>C	ENST00000299001.6	+	6	877	c.666T>C	c.(664-666)atT>atC	p.I222I	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	222					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TGTACCAAATTGGACGGAACT	0.333000													30	120					0	0	0.00058488	0	0
TREH	11181	broad.mit.edu	37	11	118532427	118532427	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:118532427C>T	ENST00000529101.1	-	6	581	c.536G>A	c.(535-537)tGg>tAg	p.W179*	TREH_ENST00000525958.1_Intron|TREH_ENST00000397925.1_Intron|TREH_ENST00000264029.4_Nonsense_Mutation_p.W179*|TREH_ENST00000530256.1_Nonsense_Mutation_p.W56*			O43280	TREA_HUMAN	trehalase (brush-border membrane glycoprotein)	179					polysaccharide digestion|trehalose catabolic process	anchored to plasma membrane	alpha,alpha-trehalase activity			NS(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.16e-05)		CTCCATGACCCAGTAGGAGTC	0.632000													5	32					0	0	0.000602214	0	0
KCNQ1	3784	broad.mit.edu	37	11	2608915	2608915	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:2608915C>T	ENST00000155840.5	+	9	1352	c.1244C>T	c.(1243-1245)tCt>tTt	p.S415F	KCNQ1_ENST00000335475.5_Missense_Mutation_p.S288F	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	415					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	CCCAAGAAGTCTGTGGTGGTG	0.647000													34	164					0	0	0.00058488	0	0
POLL	27343	broad.mit.edu	37	10	103339317	103339317	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:103339317G>A	ENST00000370162.3	-	9	2115	c.1621C>T	c.(1621-1623)Cat>Tat	p.H541Y	POLL_ENST00000370172.1_Missense_Mutation_p.H453Y|POLL_ENST00000463515.1_5'UTR|POLL_ENST00000339310.3_Missense_Mutation_p.H264Y|POLL_ENST00000370168.3_Missense_Mutation_p.H214Y|POLL_ENST00000370158.3_Missense_Mutation_p.H266Y|POLL_ENST00000456836.2_Missense_Mutation_p.H278Y|DPCD_ENST00000470165.1_Intron|POLL_ENST00000370169.1_Missense_Mutation_p.H541Y|POLL_ENST00000299206.4_Missense_Mutation_p.H541Y|DPCD_ENST00000416979.2_Intron	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	541					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		TTGCAGCCATGGGTGTTCCGG	0.617000								DNA polymerases (catalytic subunits)					16	28					0	0	0.00074312	0	0
SHANK3	85358	broad.mit.edu	37	22	51160649	51160649	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr22:51160649C>T	ENST00000414786.2	+	21	4573	c.4346C>T	c.(4345-4347)cCt>cTt	p.P1449L	SHANK3_ENST00000262795.3_Missense_Mutation_p.P1479L|SHANK3_ENST00000445220.2_Missense_Mutation_p.P1465L			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	1479										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CCTGCCCGCCCTCGCTACCTC	0.682000													13	12					0	0	0.000151284	0	0
YME1L1	10730	broad.mit.edu	37	10	27423048	27423048	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:27423048G>A	ENST00000326799.3	-	8	1014	c.866C>T	c.(865-867)tCc>tTc	p.S289F	YME1L1_ENST00000463270.1_5'UTR|YME1L1_ENST00000376016.3_Missense_Mutation_p.S232F|YME1L1_ENST00000375972.3_Missense_Mutation_p.S199F	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	289					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TCGCCTTAGGGAATCTAGGAG	0.318000													8	17					0	0	0.000157383	0	0
PAPOLB	56903	broad.mit.edu	37	7	4899799	4899799	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:4899799A>T	ENST00000404991.1	-	1	1826	c.1640T>A	c.(1639-1641)tTg>tAg	p.L547*	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	547					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		ACTGCTAATCAATGGGCCTGT	0.453000													60	83					0	0	0.000781405	0	0
RBM41	55285	broad.mit.edu	37	X	106312573	106312573	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chrX:106312573G>A	ENST00000372487.1	-	6	1013	c.987C>T	c.(985-987)ttC>ttT	p.F329F	RBM41_ENST00000372479.3_Silent_p.F329F	NM_001171080.1	NP_001164551.1	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	329	RRM.						nucleotide binding|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						GGAACCGAGCGAACAATGACA	0.418000													70	35					0	0	0.000781405	0	0
DNAH8	1769	broad.mit.edu	37	6	38835886	38835886	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:38835886C>T	ENST00000359357.3	+	46	6345	c.6091C>T	c.(6091-6093)Ctt>Ttt	p.L2031F	DNAH8_ENST00000449981.2_Missense_Mutation_p.L2248F|DNAH8_ENST00000441566.1_Missense_Mutation_p.L1995F					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATTGAGGACTCTTGGATCTCA	0.363000													32	46					0	0	0.000491102	0	0
SLC12A6	9990	broad.mit.edu	37	15	34547529	34547529	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr15:34547529G>A	ENST00000354181.3	-	8	1302	c.810C>T	c.(808-810)ctC>ctT	p.L270L	SLC12A6_ENST00000458406.2_Silent_p.L211L|SLC12A6_ENST00000397702.2_Silent_p.L211L|SLC12A6_ENST00000397707.2_Silent_p.L255L|SLC12A6_ENST00000290209.5_Silent_p.L219L|SLC12A6_ENST00000451844.2_Silent_p.L82L|SLC12A6_ENST00000560611.1_Silent_p.L270L|SLC12A6_ENST00000558667.1_Silent_p.L270L|SLC12A6_ENST00000558589.1_Silent_p.L261L|SLC12A6_ENST00000560164.1_Silent_p.L82L|RP11-1084A12.2_ENST00000559867.1_RNA			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	270					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GATAAAAGCAGAGGCCAACAG	0.443000													17	97					0	0	0.000422831	0	0
CD96	10225	broad.mit.edu	37	3	111368615	111368615	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:111368615G>A	ENST00000352690.4	+	14	1912	c.1672G>A	c.(1672-1674)Gaa>Aaa	p.E558K	CD96_ENST00000283285.5_Missense_Mutation_p.E574K	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	574	Pro-rich.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						AGAGCCCAACGAAAGTGATCT	0.463000									Opitz Trigonocephaly syndrome				13	72					0	0	0.000219431	0	0
UNC5C	8633	broad.mit.edu	37	4	96137290	96137290	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr4:96137290C>T	ENST00000453304.1	-	10	2066	c.1718G>A	c.(1717-1719)aGg>aAg	p.R573K	UNC5C_ENST00000506749.1_Missense_Mutation_p.R592K	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	573	ZU5.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		AGTTTCTTTCCTGTGTACAGT	0.418000													11	39					0	0	0.000978159	0	0
PCLO	27445	broad.mit.edu	37	7	82581603	82581603	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:82581603G>A	ENST00000423517.2	-	5	9003	c.8666C>T	c.(8665-8667)tCc>tTc	p.S2889F	PCLO_ENST00000333891.8_Missense_Mutation_p.S2889F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2820					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GATTCCCTGGGATACGGTGCT	0.463000													49	111					0	0	0.000781405	0	0
TGM4	7047	broad.mit.edu	37	3	44943043	44943043	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:44943043C>T	ENST00000296125.4	+	7	753	c.685C>T	c.(685-687)Ctc>Ttc	p.L229F		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	229					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	CCAGGGCGTGCTCATTGGGAA	0.597000													4	8					0	0	0.00024832	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110497338	110497338	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr8:110497338C>T	ENST00000378402.5	+	58	9746	c.9642C>T	c.(9640-9642)atC>atT	p.I3214I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3214					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAAGAAGTATCGTTAAAATCC	0.328000										HNSCC(38;0.096)			40	47					0	0	0.00128727	0	0
CBLC	23624	broad.mit.edu	37	19	45284596	45284596	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:45284596C>T	ENST00000270279.3	+	3	696	c.633C>T	c.(631-633)ttC>ttT	p.F211F	CBLC_ENST00000341505.4_Silent_p.F211F	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	211	Cbl-PTB.|EF-hand-like.				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				TCTTCGAGTTCGACGTCTTCA	0.612000			M		AML								67	237					0	0	0.000781405	0	0
GRIK3	2899	broad.mit.edu	37	1	37267569	37267569	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:37267569C>T	ENST00000373091.3	-	16	2659	c.2643G>A	c.(2641-2643)caG>caA	p.Q881Q		NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	881					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	TCATGGGAGGCTGAGGCTTGT	0.592000													10	9					0	0	0.000673444	0	0
OR14K1	343170	broad.mit.edu	37	1	247902770	247902770	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:247902770C>T	ENST00000283225.2	+	1	854	c.854C>T	c.(853-855)cCt>cTt	p.P285L	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						ACCTTGAACCCTGTTATCTAC	0.433000													29	43					0	0	0.000339439	0	0
MSR1	4481	broad.mit.edu	37	8	16007812	16007812	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr8:16007812C>T	ENST00000350896.3	-	7	1104	c.907G>A	c.(907-909)Ggt>Agt	p.G303S	MSR1_ENST00000355282.2_Missense_Mutation_p.G303S|MSR1_ENST00000536385.1_Missense_Mutation_p.G77S|MSR1_ENST00000262101.5_Missense_Mutation_p.G303S|MSR1_ENST00000381998.4_Missense_Mutation_p.G303S|MSR1_ENST00000445506.2_Missense_Mutation_p.G321S	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	303	Collagen-like.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CCTTTAAGACCCGGAGGACCT	0.368000													10	52					0	0	0.000151284	0	0
RADIL	55698	broad.mit.edu	37	7	4917240	4917240	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:4917240C>T	ENST00000399583.3	-	2	718	c.531G>A	c.(529-531)acG>acA	p.T177T	RADIL_ENST00000536091.1_Silent_p.T177T	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	177					cell adhesion|multicellular organismal development|signal transduction		protein binding	p.T177I(1)		NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CCTCACCTGCCGTGATGGTGT	0.612000													11	47					0	0	0.000219431	0	0
TPK1	27010	broad.mit.edu	37	7	144364830	144364830	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:144364830G>A	ENST00000538212.2	-	3	229	c.159C>T	c.(157-159)atC>atT	p.I53I	TPK1_ENST00000549981.1_5'UTR|TPK1_ENST00000360057.3_Intron|TPK1_ENST00000378099.3_Intron			Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	0					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	tctcgtttccgataaaagagt	0.463000													25	56					0	0	0.000586117	0	0
DRAM1	55332	broad.mit.edu	37	12	102302061	102302061	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:102302061C>T	ENST00000258534.8	+	4	879	c.440C>T	c.(439-441)tCa>tTa	p.S147L	DRAM1_ENST00000544152.1_Intron	NM_018370.2	NP_060840.2	Q8N682	DRAM1_HUMAN	DNA-damage regulated autophagy modulator 1	147					apoptosis|autophagy	integral to membrane|lysosomal membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12						TCTTACAAATCATGTCCCCAG	0.512000													17	82					0	0	0.00074312	0	0
CCER1	196477	broad.mit.edu	37	12	91347568	91347568	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:91347568C>T	ENST00000358859.2	-	1	1385	c.952G>A	c.(952-954)Gag>Aag	p.E318K	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		tcttcttcctcctcatcttcg	0.547000													7	20					0	0	8.12818e-05	0	0
PRLR	5618	broad.mit.edu	37	5	35072715	35072715	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr5:35072715C>T	ENST00000382002.5	-	6	931	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	PRLR_ENST00000348262.3_Missense_Mutation_p.E169K|PRLR_ENST00000342362.5_Missense_Mutation_p.E68K|PRLR_ENST00000542609.1_Missense_Mutation_p.E169K|PRLR_ENST00000310101.5_Missense_Mutation_p.E169K|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000231423.3_Missense_Mutation_p.E169K|PRLR_ENST00000397391.3_Missense_Mutation_p.E98K|PRLR_ENST00000511486.1_Missense_Mutation_p.E68K|PRLR_ENST00000513753.1_Missense_Mutation_p.E169K	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	169	Fibronectin type-III 2.				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AATCGAATTTCATACAGGAGC	0.443000													14	58					0	0	0.000422831	0	0
CYLC2	1539	broad.mit.edu	37	9	105767007	105767007	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr9:105767007C>T	ENST00000374798.3	+	4	281	c.211C>T	c.(211-213)Cgt>Tgt	p.R71C	CYLC2_ENST00000487798.1_Missense_Mutation_p.R71C	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	71	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	p.R71C(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				AAGAGGAGATCGTAGACAACC	0.363000													22	15					0	0	0.000586117	0	0
C16orf71	146562	broad.mit.edu	37	16	4786528	4786528	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr16:4786528G>A	ENST00000299320.5	+	2	491	c.13G>A	c.(13-15)Gat>Aat	p.D5N	RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_Missense_Mutation_p.D5N	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	5										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						GGCATCCAACGATAAAGGCAT	0.622000													12	30					0	0	0.000308642	0	0
CPN2	1370	broad.mit.edu	37	3	194062895	194062895	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:194062895G>A	ENST00000323830.3	-	2	626	c.537C>T	c.(535-537)aaC>aaT	p.N179N	CPN2_ENST00000429275.1_Silent_p.N179N	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	179					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GGGCCAGGAGGTTCTGGGCCA	0.647000													9	28					0	0	0.000442599	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54920345	54920345	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:54920345G>A	ENST00000293373.6	+	21	2269	c.2190G>A	c.(2188-2190)acG>acA	p.T730T	NCKAP1L_ENST00000545638.2_Silent_p.T680T	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	730					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						ACAATGCCACGACCCAGGAGA	0.433000													32	49					0	0	0.000491102	0	0
COL19A1	1310	broad.mit.edu	37	6	70847578	70847578	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:70847578G>A	ENST00000322773.4	+	19	1487	c.1383_splice	c.e19-1	p.G462_splice	COL19A1_ENST00000393344.1_Splice_Site_p.G84_splice	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	462	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TCTTGAAAGGGTGAAACTGGA	0.408000													28	88					0	0	0.000814825	0	0
SI	6476	broad.mit.edu	37	3	164733005	164733005	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:164733005C>T	ENST00000264382.3	-	33	3967	c.3905G>A	c.(3904-3906)gGa>gAa	p.G1302E		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1302	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGTTTCATTTCCTGAAATTGC	0.348000										HNSCC(35;0.089)			6	20					0	0	8.12818e-05	0	0
DEF8	54849	broad.mit.edu	37	16	90025448	90025448	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr16:90025448C>T	ENST00000563594.1	+	6	1396	c.399C>T	c.(397-399)atC>atT	p.I133I	DEF8_ENST00000563848.1_3'UTR|DEF8_ENST00000569453.1_Silent_p.I133I|DEF8_ENST00000563795.1_Silent_p.I133I|DEF8_ENST00000570182.1_Silent_p.I123I|DEF8_ENST00000418391.2_Silent_p.I133I|DEF8_ENST00000268676.7_Silent_p.I194I|DEF8_ENST00000567874.1_Silent_p.I73I	NM_001242818.1|NM_001242819.1	NP_001229747.1|NP_001229748.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	194					intracellular signal transduction		zinc ion binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		AGCCAAACATCCGAGTGCTCC	0.557000													46	60					0	0	0.000781405	0	0
OXR1	55074	broad.mit.edu	37	8	107751735	107751735	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr8:107751735C>T	ENST00000445937.1	+	12	2267	c.2006C>T	c.(2005-2007)gCa>gTa	p.A669V	OXR1_ENST00000452423.2_Intron|OXR1_ENST00000517566.2_Missense_Mutation_p.A696V|OXR1_ENST00000521592.1_5'UTR|OXR1_ENST00000531443.1_Missense_Mutation_p.A669V|OXR1_ENST00000312046.6_Missense_Mutation_p.A662V|OXR1_ENST00000449762.2_Missense_Mutation_p.A39V|OXR1_ENST00000442977.2_Missense_Mutation_p.A697V|OXR1_ENST00000297447.6_Missense_Mutation_p.A66V	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	697					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			ACAGTGAAAGCAGACCTGGAG	0.378000													22	41					0	0	0.000586117	0	0
SDE2	163859	broad.mit.edu	37	1	226180687	226180687	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:226180687G>A	ENST00000366817.1	-	3	264	c.101C>T	c.(100-102)tCc>tTc	p.S34F	SDE2_ENST00000272091.7_Silent_p.L85L					SDE2 telomere maintenance homolog (S. pombe)																		CAAGTGCTCGGAGCATAGATC	0.423000													11	50					0	0	0.00136819	0	0
CBX8	57332	broad.mit.edu	37	17	77768994	77768994	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:77768994G>A	ENST00000269385.4	-	5	727	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W		NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	204					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			AGCTCCTTCCGGGGCTTGGGG	0.672000													9	27					0	0	0.000442599	0	0
ERMAP	114625	broad.mit.edu	37	1	43296563	43296563	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:43296563C>T	ENST00000372517.2	+	4	454	c.210C>T	c.(208-210)ttC>ttT	p.F70F	ERMAP_ENST00000487556.1_Intron|ERMAP_ENST00000372514.3_Silent_p.F70F|ERMAP_ENST00000328249.3_5'UTR	NM_001017922.1	NP_001017922.1	Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)	70	Ig-like V-type.					integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGTCCCCATTCCCGCAGCGCT	0.622000													9	7					0	0	0.000673444	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815088	106815088	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr8:106815088C>T	ENST00000407775.2	+	8	3028	c.2778C>T	c.(2776-2778)tcC>tcT	p.S926S	RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000517361.1_Silent_p.S794S|ZFPM2_ENST00000378472.4_Silent_p.S657S|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Silent_p.S794S|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	926					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGCAGCCTTCCCCCAATGGAA	0.428000													8	22					0	0	0.000157383	0	0
MUC16	94025	broad.mit.edu	37	19	8995663	8995663	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:8995663C>T	ENST00000397910.4	-	63	41528	c.41325G>A	c.(41323-41325)aaG>aaA	p.K13775K	MUC16_ENST00000380951.5_Silent_p.K416K	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13777				Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			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						AGGCTGGAGTCTTAGATGCTC	0.488000													5	18					0	0	0.000602214	0	0
LYZ	4069	broad.mit.edu	37	12	69746970	69746970	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:69746970C>T	ENST00000261267.2	+	4	486	c.418C>T	c.(418-420)Cgt>Tgt	p.R140C	LYZ_ENST00000549690.1_Silent_p.S113S	NM_000239.2	NP_000230.1	P61626	LYSC_HUMAN	lysozyme	140					cell wall macromolecule catabolic process|cytolysis|defense response to bacterium|inflammatory response	extracellular space	lysozyme activity|protein binding	p.R140S(2)		endometrium(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187)		Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			CAGAGATGTCCGTCAGTATGT	0.378000													21	84					0	0	0.000720815	0	0
LIPE	3991	broad.mit.edu	37	19	42931223	42931223	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:42931223G>A	ENST00000244289.4	-	1	355	c.79C>T	c.(79-81)Cct>Tct	p.P27S	LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000597203.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	27					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TCTGGCCCAGGCTCTAGCGGG	0.532000													27	37					0	0	0.000339439	0	0
KCNJ9	3765	broad.mit.edu	37	1	160054185	160054185	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:160054185G>A	ENST00000368088.3	+	2	607	c.365G>A	c.(364-366)gGc>gAc	p.G122D		NM_004983.2	NP_004974.2	Q92806	IRK9_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 9	122					synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding			biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACCACCATCGGCTACGGGCAC	0.657000													8	35					0	0	0.000157383	0	0
EXD1	161829	broad.mit.edu	37	15	41483671	41483671	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr15:41483671G>A	ENST00000314992.5	-	8	849	c.659C>T	c.(658-660)tCc>tTc	p.S220F	EXD1_ENST00000458580.2_Missense_Mutation_p.S278F	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	220					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						TTCTAGAAAGGAGAGATATTT	0.383000													9	61					0	0	0.000673444	0	0
PI16	221476	broad.mit.edu	37	6	36931063	36931063	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:36931063C>T	ENST00000373674.3	+	5	1273	c.945C>T	c.(943-945)atC>atT	p.I315I	PI16_ENST00000491324.1_Intron	NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	315						extracellular region|integral to membrane	peptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATGTTCCTATCCCAAAATCAG	0.527000													15	40					0	0	0.00152264	0	0
CAMK2G	818	broad.mit.edu	37	10	75608802	75608802	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:75608802G>A	ENST00000423381.1	-	7	609	c.486C>T	c.(484-486)atC>atT	p.I162I	CAMK2G_ENST00000351293.3_Silent_p.I162I|CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000444854.2_Intron|CAMK2G_ENST00000394762.2_Silent_p.I162I|CAMK2G_ENST00000305762.7_Silent_p.I162I|CAMK2G_ENST00000322680.3_Silent_p.I162I|CAMK2G_ENST00000322635.3_Silent_p.I162I|CAMK2G_ENST00000372765.1_Silent_p.I162I	NM_001204492.1	NP_001191421.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma	162	Protein kinase.				insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)					CCTGTACTTCGATGGCTAGGC	0.562000											OREG0020267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	33					0	0	0.000958276	0	0
C2orf71	388939	broad.mit.edu	37	2	29294562	29294562	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:29294562C>T	ENST00000331664.5	-	1	2565	c.2566G>A	c.(2566-2568)Gag>Aag	p.E856K		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	856					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GGGGAGTTCTCTGTGGACTTG	0.602000													33	52					0	0	0.000491102	0	0
BPI	671	broad.mit.edu	37	20	36954768	36954768	+	Silent	SNP	C	C	T	rs144501421		TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr20:36954768C>T	ENST00000262865.4	+	10	1196	c.1107C>T	c.(1105-1107)gcC>gcT	p.A369A	BPI_ENST00000489102.1_3'UTR|CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	369					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TCTACCCTGCCGTGGATGTCC	0.582000													8	24					0	0	0.000157383	0	0
ASAH2	56624	broad.mit.edu	37	10	52002964	52002964	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:52002964C>T	ENST00000395526.3	-	3	507	c.508G>A	c.(508-510)Gag>Aag	p.E170K	ASAH2_ENST00000447815.1_Missense_Mutation_p.E170K|ASAH2_ENST00000329428.6_Missense_Mutation_p.E151K	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	170					apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity			large_intestine(1)|lung(9)|urinary_tract(1)	11						TCACTTACCTCCAGCCTGAGC	0.428000													21	73					0	0	0.000229342	0	0
KIAA0020	9933	broad.mit.edu	37	9	2837296	2837296	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr9:2837296T>C	ENST00000397885.2	-	3	394	c.188A>G	c.(187-189)aAg>aGg	p.K63R		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	63						endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		CTTTACACCCTTTTTCCCAAG	0.388000													5	182					0	0	0.000602214	0	0
PLCB4	5332	broad.mit.edu	37	20	9288477	9288477	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr20:9288477G>A	ENST00000378501.2	+	1	31	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K	PLCB4_ENST00000334005.3_Missense_Mutation_p.E6K|PLCB4_ENST00000378493.1_Missense_Mutation_p.E6K|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Missense_Mutation_p.E6K|PLCB4_ENST00000378473.3_Missense_Mutation_p.E6K|PLCB4_ENST00000278655.4_Missense_Mutation_p.E6K	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	6					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CAAACCTTATGAATTTAACTG	0.333000													10	31					0	0	0.000978159	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101762046	101762046	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:101762046C>T	ENST00000334289.3	-	9	1726	c.1131G>A	c.(1129-1131)atG>atA	p.M377I		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	377	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		TTCTAATTTTCATTGAAACAG	0.294000													25	46					0	0	0.000586117	0	0
CABP1	9478	broad.mit.edu	37	12	121098114	121098114	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:121098114C>T	ENST00000453000.1	+	3	1121	c.609C>T	c.(607-609)atC>atT	p.I203I	CABP1_ENST00000351200.2_Silent_p.I64I|CABP1_ENST00000316803.3_Silent_p.I267I|CABP1_ENST00000288616.3_Silent_p.I124I			Q9NZU7	CABP1_HUMAN	calcium binding protein 1	267						cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGGAGCTCATCGAACTGTCCC	0.567000													104	138					0	0	0.000781405	0	0
LINC00207	388910	broad.mit.edu	37	22	44966447	44966447	+	RNA	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr22:44966447G>A	ENST00000605505.1	+	0	225					NR_028409.1															lung(3)	3						AACCAGAGGGGAACACCGTGC	0.507000													5	5					0	0	8.12818e-05	0	0
KIF21B	23046	broad.mit.edu	37	1	200972894	200972894	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:200972894G>A	ENST00000332129.2	-	8	1348	c.1032C>T	c.(1030-1032)atC>atT	p.I344I	KIF21B_ENST00000422435.2_Silent_p.I344I|KIF21B_ENST00000461742.2_Silent_p.I344I|KIF21B_ENST00000360529.5_Silent_p.I344I	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	344					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TCACACAGGCGATCATGATGG	0.567000													12	56					0	0	0.000151284	0	0
SLC52A3	113278	broad.mit.edu	37	20	742387	742387	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr20:742387G>A	ENST00000381944.3	-	4	1396	c.1155C>T	c.(1153-1155)ccC>ccT	p.P385P	SLC52A3_ENST00000473664.1_5'UTR|SLC52A3_ENST00000217254.7_Silent_p.P385P			Q9NQ40	RFT2_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	385					sensory perception of sound	integral to plasma membrane	riboflavin transporter activity										AGAGGGGGCAGGGGCTCATCA	0.647000													7	13					0	0	8.12818e-05	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52002861	52002861	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:52002861C>T	ENST00000291707.3	-	3	973	c.918G>A	c.(916-918)acG>acA	p.T306T	SIGLEC12_ENST00000598614.1_Silent_p.T188T	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	306	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TCCAGGTGATCGTGGGGGGCG	0.667000													18	26					0	0	0.000958276	0	0
PNLIP	5406	broad.mit.edu	37	10	118306870	118306870	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:118306870G>A	ENST00000369221.2	+	3	139	c.111G>A	c.(109-111)acG>acA	p.T37T	PNLIP_ENST00000470562.1_3'UTR	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	37					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	CAGGAATTACGGAAAGACCCC	0.428000													14	44					0	0	0.000422831	0	0
OR5H2	79310	broad.mit.edu	37	3	98002360	98002360	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:98002360C>T	ENST00000355273.2	+	1	629	c.629C>T	c.(628-630)tCa>tTa	p.S210L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TTGTCTGGCTCAATTCAGGTA	0.318000													9	40					0	0	0.000274275	0	0
KIF13A	63971	broad.mit.edu	37	6	17834269	17834269	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:17834269C>T	ENST00000378814.5	-	12	1188	c.1189G>A	c.(1189-1191)Gaa>Aaa	p.E397K	KIF13A_ENST00000378816.5_Missense_Mutation_p.E397K|KIF13A_ENST00000259711.6_Missense_Mutation_p.E397K|KIF13A_ENST00000378826.2_Missense_Mutation_p.E397K|KIF13A_ENST00000378843.2_Missense_Mutation_p.E397K	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	397					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TCAGACTCTTCGAGCTTCTCC	0.383000													7	26					0	0	0.000274275	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50464043	50464043	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:50464043C>T	ENST00000447370.2	-	2	316	c.226G>A	c.(226-228)Gga>Aga	p.G76R	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.G76R	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	76	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CTGGTCCGTCCTTTGAACCAG	0.607000													12	24					0	0	0.00136819	0	0
TRAV8-4	28682	broad.mit.edu	37	14	22363157	22363157	+	RNA	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr14:22363157G>A	ENST00000390438.2	+	0	416																											TCCACCTGACGAAACCCTCAG	0.507000													20	42					0	0	0.00121646	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74880348	74880348	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:74880348C>T	ENST00000289575.5	+	5	974	c.579C>T	c.(577-579)ttC>ttT	p.F193F	SLCO2B1_ENST00000525650.1_Silent_p.F49F|SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000341411.4_Intron|SLCO2B1_ENST00000428359.2_Silent_p.F171F|SLCO2B1_ENST00000454962.2_Intron|SLCO2B1_ENST00000532236.1_Silent_p.F77F|SLCO2B1_ENST00000531756.1_Intron	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	193					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	GGATCATGTTCGTGGCACAGA	0.612000													30	31					0	0	0.000339439	0	0
PMFBP1	83449	broad.mit.edu	37	16	72184683	72184683	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr16:72184683C>T	ENST00000537465.1	-	5	618	c.460G>A	c.(460-462)Ggg>Agg	p.G154R	PMFBP1_ENST00000237353.10_Missense_Mutation_p.G154R|PMFBP1_ENST00000355636.6_Missense_Mutation_p.G9R			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	154										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				AGCTTCTCCCCTGTGTTCTCG	0.493000													36	45					0	0	0.00170553	0	0
B3GNT1	11041	broad.mit.edu	37	11	66113990	66113990	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:66113990G>A	ENST00000311181.4	-	1	1173	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W		NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1	343					poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						CCGTACTGCCGAAAGCGCTCG	0.622000													23	33					0	0	0.000878237	0	0
TIMMDC1	51300	broad.mit.edu	37	3	119219648	119219648	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:119219648A>T	ENST00000494664.1	+	2	503	c.301A>T	c.(301-303)Aaa>Taa	p.K101*	TIMMDC1_ENST00000493694.1_Intron	NM_016589.3	NP_057673.2	Q9NPL8	TIDC1_HUMAN	translocase of inner mitochondrial membrane domain containing 1	101						integral to membrane|mitochondrial inner membrane	protein transporter activity			autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						TATTCATGCTAAACAACAATA	0.433000													15	31					0	0	0.00074312	0	0
KRT72	140807	broad.mit.edu	37	12	52994971	52994971	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:52994971G>A	ENST00000293745.2	-	1	351	c.266C>T	c.(265-267)cCc>cTc	p.P89L	KRT72_ENST00000398066.3_5'UTR|KRT72_ENST00000537672.2_Missense_Mutation_p.P89L|KRT72_ENST00000354310.4_Missense_Mutation_p.P89L	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	89	Gly-rich.|Head.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		GCACACGGAGGGACACTTGGG	0.736000													5	12					0	0	0.00116845	0	0
LIFR	3977	broad.mit.edu	37	5	38482087	38482087	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr5:38482087C>T	ENST00000263409.4	-	20	3066	c.2904G>A	c.(2902-2904)ggG>ggA	p.G968G	LIFR_ENST00000453190.2_Silent_p.G968G	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	968					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CCTGTGCAGTCCCTCCAGCTT	0.468000			T	PLAG1	salivary adenoma								38	120					0	0	0.00170553	0	0
SLC24A3	57419	broad.mit.edu	37	20	19665880	19665880	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr20:19665880G>A	ENST00000328041.6	+	12	1396	c.1199G>A	c.(1198-1200)aGg>aAg	p.R400K		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	400						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGGACACGGAGGGACGATGTT	0.537000													12	44					0	0	0.000978159	0	0
COL10A1	1300	broad.mit.edu	37	6	116442962	116442962	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:116442962C>T	ENST00000327673.4	-	2	724	c.317G>A	c.(316-318)gGg>gAg	p.G106E	COL10A1_ENST00000243222.4_Missense_Mutation_p.G106E|AL121963.1_ENST00000430695.1_Missense_Mutation_p.P115S|NT5DC1_ENST00000319550.4_Intron			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	106	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		ACCTGGTTTCCCTACAGCTGA	0.602000													5	25					0	0	8.12818e-05	0	0
MUC16	94025	broad.mit.edu	37	19	9084523	9084523	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:9084523G>A	ENST00000397910.4	-	1	7495	c.7292C>T	c.(7291-7293)tCc>tTc	p.S2431F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2431	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			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						GGTGTTACTGGAAACAGATGG	0.512000													17	18					0	0	0.00121646	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55024592	55024592	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr18:55024592C>T	ENST00000324000.3	+	3	2785	c.751C>T	c.(751-753)Cac>Tac	p.H251Y		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	251					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		ATTTTTCTTCCACACTTCAGC	0.403000													32	22					0	0	0.000339439	0	0
BANK1	55024	broad.mit.edu	37	4	102783700	102783700	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr4:102783700C>T	ENST00000504592.1	+	8	1015	c.597C>T	c.(595-597)ttC>ttT	p.F199F	BANK1_ENST00000322953.4_Silent_p.F214F|BANK1_ENST00000508653.1_Silent_p.F81F|BANK1_ENST00000444316.2_Silent_p.F184F|BANK1_ENST00000428908.1_Silent_p.F81F			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	214					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		GTGAAATATTCATAATTTTGA	0.318000													15	39					0	0	0.000422831	0	0
PPFIA2	8499	broad.mit.edu	37	12	81734965	81734965	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:81734965C>T	ENST00000550584.2	-	19	2580	c.2285G>A	c.(2284-2286)gGt>gAt	p.G762D	PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000443686.3_Missense_Mutation_p.G663D|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000333447.7_Missense_Mutation_p.G744D|PPFIA2_ENST00000407050.4_Missense_Mutation_p.G688D|PPFIA2_ENST00000552948.1_Missense_Mutation_p.G762D|PPFIA2_ENST00000549396.1_Missense_Mutation_p.G762D|PPFIA2_ENST00000548586.1_Missense_Mutation_p.G762D|PPFIA2_ENST00000541570.2_Missense_Mutation_p.G329D|PPFIA2_ENST00000549325.1_Missense_Mutation_p.G744D|PPFIA2_ENST00000550359.2_Missense_Mutation_p.G609D	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	688										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GTCCTCTCGACCATCTTCTTC	0.393000													19	45					0	0	0.000958276	0	0
GRM3	2913	broad.mit.edu	37	7	86415831	86415831	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:86415831C>T	ENST00000361669.2	+	3	1822	c.723C>T	c.(721-723)atC>atT	p.I241I	GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000394720.2_Silent_p.I239I|GRM3_ENST00000536043.1_Silent_p.I113I|GRM3_ENST00000439827.1_Silent_p.I241I|AC005009.2_ENST00000418031.1_RNA	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	241					synaptic transmission	integral to plasma membrane		p.I241I(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	ACATCTGCATCGCTACGGCGG	0.617000													36	41					0	0	0.000814825	0	0
SFXN4	119559	broad.mit.edu	37	10	120917223	120917223	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:120917223G>A	ENST00000355697.2	-	9	513	c.494C>T	c.(493-495)tCa>tTa	p.S165L	SFXN4_ENST00000461438.1_5'UTR|SFXN4_ENST00000330036.6_Missense_Mutation_p.S156L	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	165					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		CATTAGTAATGATCTTTCTAG	0.333000													8	33					0	0	0.000308642	0	0
GRM5	2915	broad.mit.edu	37	11	88337902	88337902	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:88337902C>T	ENST00000418177.2	-	5	1745	c.1378G>A	c.(1378-1380)Gga>Aga	p.G460R	GRM5_ENST00000305432.5_Missense_Mutation_p.G460R|GRM5_ENST00000305447.4_Missense_Mutation_p.G460R|GRM5_ENST00000455756.2_Missense_Mutation_p.G460R|GRM5_ENST00000393297.1_Missense_Mutation_p.G460R			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	460					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GGAGAGTCTCCATTCTCATCG	0.428000													7	18					0	0	8.12818e-05	0	0
PIGO	84720	broad.mit.edu	37	9	35095429	35095429	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr9:35095429G>A	ENST00000378617.3	-	2	528	c.134C>T	c.(133-135)cCa>cTa	p.P45L	PIGO_ENST00000361778.2_Missense_Mutation_p.P45L|PIGO_ENST00000298004.5_Missense_Mutation_p.P45L|PIGO_ENST00000492770.1_5'UTR|PIGO_ENST00000341666.3_Missense_Mutation_p.P45L	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	45					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CCCAGGGCCTGGGGGCTCTTG	0.607000													20	6					0	0	0.000295444	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764132	92764132	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:92764132C>T	ENST00000318238.4	-	5	2369	c.1153G>A	c.(1153-1155)Gga>Aga	p.G385R	SAMD9L_ENST00000437805.1_Missense_Mutation_p.G385R|SAMD9L_ENST00000411955.1_Missense_Mutation_p.G385R	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	385										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GCCTTCATTCCATACTCTTCT	0.393000													68	180					0	0	0.000781405	0	0
ANKEF1	63926	broad.mit.edu	37	20	10030179	10030179	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr20:10030179C>T	ENST00000378380.3	+	6	1291	c.962C>T	c.(961-963)cCa>cTa	p.P321L	ANKEF1_ENST00000378392.1_Missense_Mutation_p.P321L|SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000488991.1_3'UTR	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1																		GCCAAAAATCCAAATCCACTG	0.527000													36	40					0	0	0.00058488	0	0
TMEM132E	124842	broad.mit.edu	37	17	32963172	32963172	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:32963172C>T	ENST00000321639.5	+	9	2182	c.1854C>T	c.(1852-1854)atC>atT	p.I618I		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	618						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GCCACACCATCCTAGCCACCA	0.622000													10	12					0	0	0.000151284	0	0
SCN9A	6335	broad.mit.edu	37	2	167108351	167108351	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:167108351G>A	ENST00000375387.4	-	18	3739	c.3399C>T	c.(3397-3399)aaC>aaT	p.N1133N	SCN9A_ENST00000303354.6_Silent_p.N1133N|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Silent_p.N1121N|SCN9A_ENST00000409435.1_Silent_p.N1132N			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1132						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CAGGCAAAGGGTTATCAACTG	0.453000													15	18					0	0	0.000219431	0	0
CPZ	8532	broad.mit.edu	37	4	8621144	8621144	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr4:8621144G>A	ENST00000429646.2	+	9	3376	c.583G>A	c.(583-585)Gga>Aga	p.G195R	CPZ_ENST00000315782.6_Missense_Mutation_p.G576R|CPZ_ENST00000360986.4_Missense_Mutation_p.G587R|CPZ_ENST00000382480.2_Missense_Mutation_p.G450R			Q66K79	CBPZ_HUMAN	carboxypeptidase Z	587					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TCTGGGGATGGGACCCAAGAA	0.627000													11	36					0	0	0.00136819	0	0
LYVE1	10894	broad.mit.edu	37	11	10585851	10585851	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:10585851C>T	ENST00000256178.3	-	2	314	c.156G>A	c.(154-156)ctG>ctA	p.L52L	MRVI1-AS1_ENST00000529979.1_RNA|LYVE1_ENST00000531706.1_Intron|LYVE1_ENST00000529598.1_Intron|MRVI1-AS1_ENST00000529829.1_RNA	NM_006691.3	NP_006682.2	Q9Y5Y7	LYVE1_HUMAN	lymphatic vessel endothelial hyaluronan receptor 1	52	Link.				anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport	integral to plasma membrane|membrane fraction				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8				all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)		CTGTGAAATTCAGCTGCTGGT	0.483000													15	37					0	0	0.000219431	0	0
PANK4	55229	broad.mit.edu	37	1	2445459	2445459	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:2445459G>A	ENST00000378466.3	-	12	1569	c.1557C>T	c.(1555-1557)ttC>ttT	p.F519F	PANK4_ENST00000435556.3_Silent_p.F480F	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	519					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		AGGGATCCGGGAAGTTGAACT	0.652000													59	55					0	0	0.000781405	0	0
OR1A1	8383	broad.mit.edu	37	17	3119386	3119386	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:3119386C>T	ENST00000304094.1	+	1	472	c.472C>T	c.(472-474)Ccc>Tcc	p.P158S		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						CAATGCCCTCCCCCACACTCT	0.512000													22	46					0	0	0.000229342	0	0
TEKT1	83659	broad.mit.edu	37	17	6716370	6716370	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:6716370G>A	ENST00000338694.2	-	6	761	c.632C>T	c.(631-633)tCc>tTc	p.S211F	TEKT1_ENST00000535086.1_Missense_Mutation_p.S65F	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	211					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				CAGACTCACGGAGCTGAAACA	0.547000													13	23					0	0	0.000308642	0	0
OBSCN	84033	broad.mit.edu	37	1	228487703	228487703	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:228487703C>T	ENST00000570156.2	+	51	13669	c.13595C>T	c.(13594-13596)aCc>aTc	p.T4532I	OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000602685.1_3'UTR|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000366707.4_Missense_Mutation_p.T1222I	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3575	Fibronectin type-III 3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGCCCAACACCCTCAAAGAT	0.552000													27	20					0	0	0.000720815	0	0
EVC2	132884	broad.mit.edu	37	4	5687164	5687164	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr4:5687164G>A	ENST00000310917.2	-	6	1240	c.509C>T	c.(508-510)gCt>gTt	p.A170V	EVC2_ENST00000344408.5_Missense_Mutation_p.A250V|EVC2_ENST00000344938.1_Missense_Mutation_p.A250V	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	250						integral to membrane				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						GAGGTCTCCAGCCTGGAGCGT	0.587000													13	58					0	0	0.000151284	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47558509	47558509	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr20:47558509C>T	ENST00000371917.4	+	3	261	c.261C>T	c.(259-261)tcC>tcT	p.S87S		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	87					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TCAGCACATCCCTTGACTGCT	0.502000													16	51					0	0	0.000422831	0	0
TG	7038	broad.mit.edu	37	8	134144179	134144179	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr8:134144179C>T	ENST00000220616.4	+	46	8026	c.7986C>T	c.(7984-7986)ttC>ttT	p.F2662F	TG_ENST00000519543.1_Silent_p.F795F|TG_ENST00000542445.1_Silent_p.F1032F|TG_ENST00000377869.1_Silent_p.F2605F	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2662					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TTTCCCACTTCATCAGATCAG	0.493000													22	69					0	0	0.00047179	0	0
PDE4D	5144	broad.mit.edu	37	5	58289244	58289244	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr5:58289244G>A	ENST00000340635.6	-	7	1145	c.970C>T	c.(970-972)Cgg>Tgg	p.R324W	PDE4D_ENST00000502484.2_Missense_Mutation_p.R263W|PDE4D_ENST00000405755.2_Missense_Mutation_p.R202W|PDE4D_ENST00000546160.1_Missense_Mutation_p.R263W|PDE4D_ENST00000317118.8_Missense_Mutation_p.R33W|PDE4D_ENST00000507116.1_Missense_Mutation_p.R260W|PDE4D_ENST00000358923.6_Missense_Mutation_p.R22W|PDE4D_ENST00000360047.5_Missense_Mutation_p.R188W|PDE4D_ENST00000503258.1_Missense_Mutation_p.R194W	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	324					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	TTTCCAGACCGACTCATTTCA	0.318000													39	28					0	0	0.000781405	0	0
CFAP54	144535	broad.mit.edu	37	12	97114192	97114192	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:97114192C>T	ENST00000524981.3	+	17	2167	c.2167C>T	c.(2167-2169)Ctg>Ttg	p.L723L				Q6ZTY8	CL063_HUMAN		697										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						GTCGATGTTACTGATGGAAGC	0.443000													9	23					0	0	0.000274275	0	0
ABCB5	340273	broad.mit.edu	37	7	20782554	20782554	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:20782554C>T	ENST00000404938.2	+	25	3731	c.3079C>T	c.(3079-3081)Cgc>Tgc	p.R1027C	ABCB5_ENST00000258738.6_Missense_Mutation_p.R582C	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	582					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CTATCCATGTCGCCCAGATGT	0.468000													21	52					0	0	0.000375601	0	0
KRT24	192666	broad.mit.edu	37	17	38857515	38857515	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:38857515C>T	ENST00000264651.2	-	3	788	c.732G>A	c.(730-732)gtG>gtA	p.V244V		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	244	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				TGTCAGCCTCCACGCTCTGCC	0.542000													14	13					0	0	0.000151284	0	0
RIMS2	9699	broad.mit.edu	37	8	105263362	105263362	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr8:105263362G>A	ENST00000507740.1	+	21	3480	c.3244G>A	c.(3244-3246)Gaa>Aaa	p.E1082K	RIMS2_ENST00000262231.10_Missense_Mutation_p.E1107K|RIMS2_ENST00000339750.2_Missense_Mutation_p.E204K|RIMS2_ENST00000406091.3_Missense_Mutation_p.E1268K|RIMS2_ENST00000436393.2_Missense_Mutation_p.E1286K	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1330					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ATTATCTTTCGAAGAGAGTCC	0.368000										HNSCC(12;0.0054)			13	17					0	0	0.000219431	0	0
GYS1	2997	broad.mit.edu	37	19	49473833	49473833	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:49473833G>A	ENST00000323798.3	-	14	1975	c.1779C>T	c.(1777-1779)tcC>tcT	p.S593S	GYS1_ENST00000541188.1_Silent_p.S513S|GYS1_ENST00000544287.1_Silent_p.S226S|GYS1_ENST00000263276.6_Silent_p.S529S	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	593					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		CCAGAAGGTCGGAGAGGCGCT	0.597000											OREG0025611	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	17					0	0	0.000602214	0	0
SDK2	54549	broad.mit.edu	37	17	71346892	71346892	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:71346892G>A	ENST00000392650.3	-	42	5796	c.5796C>T	c.(5794-5796)ttC>ttT	p.F1932F	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Silent_p.F1913F	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1932					cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TGACCACCAAGAACCACCACT	0.552000													23	59					0	0	0.00106085	0	0
INPP5D	3635	broad.mit.edu	37	2	234102595	234102595	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:234102595G>A	ENST00000359570.5	+	25	2548	c.2548G>A	c.(2548-2550)Gag>Aag	p.E850K	INPP5D_ENST00000455936.2_Missense_Mutation_p.E614K|INPP5D_ENST00000450745.1_Missense_Mutation_p.E614K			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	862					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CAAGACGAGGGAGAAGCTCTA	0.592000													7	15					0	0	0.000157383	0	0
SLIT3	6586	broad.mit.edu	37	5	168119619	168119619	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr5:168119619C>T	ENST00000519560.1	-	29	3588	c.3169G>A	c.(3169-3171)Gga>Aga	p.G1057R	SLIT3_ENST00000332966.8_Missense_Mutation_p.G1064R|SLIT3_ENST00000404867.3_Missense_Mutation_p.G1057R	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1057	EGF-like 4.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TACCTGAATCCTTTGTCCAGG	0.547000													31	21					0	0	0.00178596	0	0
APRT	353	broad.mit.edu	37	16	88876893	88876893	+	Missense_Mutation	SNP	G	G	C	rs3169258		TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr16:88876893G>C	ENST00000378364.3	-	3	303	c.259C>G	c.(259-261)Cga>Gga	p.R87G	APRT_ENST00000426324.2_Missense_Mutation_p.R87G|APRT_ENST00000563655.1_Intron	NM_000485.2	NP_000476.1	P07741	APT_HUMAN	adenine phosphoribosyltransferase	87					purine ribonucleoside salvage	cytosol|nucleus	adenine phosphoribosyltransferase activity|AMP binding|protein binding			cervix(1)|endometrium(1)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	CCCCGCTTTCGGATGAGCACG	0.647000													10	15					0	0	0.000673444	0	0
STAB1	23166	broad.mit.edu	37	3	52556577	52556577	+	Missense_Mutation	SNP	G	G	A	rs148752341		TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:52556577G>A	ENST00000321725.6	+	61	6693	c.6617G>A	c.(6616-6618)cGg>cAg	p.R2206Q		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2206	Link.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCAGAGAAACGGGCTGGCGTT	0.612000													13	47					0	0	0.00074312	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				65	49					0	0	0.000781405	0	0
C12orf42	374470	broad.mit.edu	37	12	103762667	103762667	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:103762667G>A	ENST00000548048.1	-	7	552	c.56C>T	c.(55-57)cCa>cTa	p.P19L	C12orf42_ENST00000315192.8_Missense_Mutation_p.P86L|C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000548883.1_Missense_Mutation_p.P86L|C12orf42_ENST00000378113.2_Missense_Mutation_p.P86L			Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	86										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						TAATTTACCTGGAAAATTCAG	0.343000													6	3					0	0	0.00116845	0	0
GJA5	2702	broad.mit.edu	37	1	147230415	147230415	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:147230415C>T	ENST00000271348.2	-	2	1093	c.932G>A	c.(931-933)gGt>gAt	p.G311D	GJA5_ENST00000369237.1_Missense_Mutation_p.G311D|RP11-433J22.2_ENST00000428911.1_RNA	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	311					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			CTGGATGAAACCTTCCCCAGG	0.517000													35	101					0	0	0.000491102	0	0
GPLD1	2822	broad.mit.edu	37	6	24447166	24447166	+	Missense_Mutation	SNP	C	C	T	rs140138874	byFrequency	TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:24447166C>T	ENST00000230036.1	-	18	1830	c.1720G>A	c.(1720-1722)Gag>Aag	p.E574K		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	574						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						AAGTCTTCCTCGCCTCTCACC	0.488000													31	38					0	0	0.00058488	0	0
BDP1	55814	broad.mit.edu	37	5	70805569	70805569	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr5:70805569C>T	ENST00000358731.4	+	17	2913	c.2650C>T	c.(2650-2652)Ccc>Tcc	p.P884S	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	884	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AGCCATTTCTCCCAGGGAGAA	0.418000													18	19					0	0	0.000566183	0	0
CD86	942	broad.mit.edu	37	3	121774339	121774339	+	Translation_Start_Site	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:121774339G>A	ENST00000330540.2	+	1	119	c.3G>A	c.(1-3)atG>atA	p.M1I	CD86_ENST00000493101.1_Start_Codon_SNP_p.M1I|CD86_ENST00000469710.1_5'UTR|CD86_ENST00000264468.5_Start_Codon_SNP_p.M1I	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	1					interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	CAGCCAAAATGGATCCCCAGT	0.453000													13	27					0	0	0.000219431	0	0
PPARA	5465	broad.mit.edu	37	22	46614165	46614165	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr22:46614165C>T	ENST00000396000.2	+	5	640	c.375C>T	c.(373-375)ttC>ttT	p.F125F	PPARA_ENST00000402126.1_Silent_p.F125F|PPARA_ENST00000407236.1_Silent_p.F125F|PPARA_ENST00000434345.2_Silent_p.F125F|PPARA_ENST00000262735.5_Silent_p.F125F			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	125					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	CACAGGGCTTCTTTCGGCGAA	0.448000													14	12					0	0	0.000219431	0	0
TRIM5	85363	broad.mit.edu	37	11	5686856	5686856	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:5686856G>A	ENST00000396847.3	-	7	1160	c.925C>T	c.(925-927)Ccc>Tcc	p.P309S	TRIM5_ENST00000305836.5_Intron|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000380034.3_Intron|TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000483835.1_Intron|TRIM5_ENST00000396855.3_Intron			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	0	B30.2/SPRY.				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		AAGCCGCAGGGTGGCTTATGA	0.348000											OREG0003727	type=REGULATORY REGION|Gene=AK074363|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	28	67					0	0	0.00178596	0	0
ITLN1	55600	broad.mit.edu	37	1	160850449	160850449	+	Missense_Mutation	SNP	G	G	A	rs147618489	byFrequency	TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:160850449G>A	ENST00000326245.3	-	6	729	c.614C>T	c.(613-615)cCg>cTg	p.P205L	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	205	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AGGGATCACCGGGCCGTTGTC	0.438000													62	136					0	0	0.000781405	0	0
MYO15A	51168	broad.mit.edu	37	17	18051410	18051410	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:18051410G>A	ENST00000205890.5	+	31	6915	c.6577G>A	c.(6577-6579)Ggc>Agc	p.G2193S		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2193	MyTH4 1.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCAGGCCATGGGCCGGGCCCA	0.627000													22	39					0	0	0.000375601	0	0
TPX2	22974	broad.mit.edu	37	20	30385293	30385293	+	Silent	SNP	C	C	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr20:30385293C>A	ENST00000340513.4	+	17	2556	c.2028C>A	c.(2026-2028)ccC>ccA	p.P676P	TPX2_ENST00000300403.6_Silent_p.P640P			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	640					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			CCTTTGTTCCCAAGAAAGAGA	0.458000													11	232					0.00136819	0.00758613	0.00136819	1	0
SDK1	221935	broad.mit.edu	37	7	4152923	4152923	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:4152923T>A	ENST00000404826.2	+	24	3576	c.3437T>A	c.(3436-3438)tTt>tAt	p.F1146Y	SDK1_ENST00000389531.3_Missense_Mutation_p.F1146Y	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1146	Fibronectin type-III 5.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TCCTTTAGATTTCGAATGAAG	0.537000													49	297					0	0	0.000781405	0	0
MAGEB18	286514	broad.mit.edu	37	X	26157408	26157408	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chrX:26157408G>A	ENST00000325250.1	+	2	493	c.306G>A	c.(304-306)tgG>tgA	p.W102*		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	102							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						CTGAGGGCTGGAAAGAAGATC	0.433000													10	4					0	0	0.000442599	0	0
DMC1	11144	broad.mit.edu	37	22	38934573	38934573	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr22:38934573G>A	ENST00000216024.2	-	10	907	c.631C>T	c.(631-633)Cat>Tat	p.H211Y	DMC1_ENST00000428462.2_Missense_Mutation_p.H156Y	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1	211					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					GCTTCTTCATGGAACTTTGCT	0.353000								Homologous recombination					77	211					0	0	0.000781405	0	0
COL5A3	50509	broad.mit.edu	37	19	10116637	10116637	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:10116637G>A	ENST00000264828.3	-	3	357	c.272C>T	c.(271-273)tCc>tTc	p.S91F		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	91	TSP N-terminal.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GATCAGCAAGGAGAAGTTCTC	0.617000													17	23					0	0	0.00074312	0	0
OR4N5	390437	broad.mit.edu	37	14	20612558	20612558	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr14:20612558C>T	ENST00000333629.1	+	1	664	c.664C>T	c.(664-666)Ctc>Ttc	p.L222F		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		TGCAGTCATCCTCTGTCGTAT	0.498000													23	47					0	0	0.000229342	0	0
PKD1	5310	broad.mit.edu	37	16	2149654	2149654	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr16:2149654G>A	ENST00000262304.4	-	30	10249	c.10041C>T	c.(10039-10041)tcC>tcT	p.S3347S	PKD1_ENST00000423118.1_Silent_p.S3347S	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3347					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCTTGCTCCGGGACATCCGGA	0.647000													3	5					0	0	0.000602214	0	0
PHKA2	5256	broad.mit.edu	37	X	18958111	18958111	+	Splice_Site	SNP	A	A	G			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chrX:18958111A>G	ENST00000379942.4	-	9	1584		c.e9+1			NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)						glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TTTAAATACAACCTCTCTTGG	0.353000													72	30					0	0	0.000781405	0	0
MORN5	254956	broad.mit.edu	37	9	124936831	124936831	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr9:124936831G>A	ENST00000536616.1	+	4	402	c.364G>A	c.(364-366)Gat>Aat	p.D122N	MORN5_ENST00000486801.1_3'UTR|MORN5_ENST00000373764.3_Missense_Mutation_p.D122N			Q5VZ52	MORN5_HUMAN	MORN repeat containing 5	122										endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						GGGCTATTACGATTGTGGAGA	0.463000													12	56					0	0	0.000978159	0	0
WNK3	65267	broad.mit.edu	37	X	54263502	54263502	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chrX:54263502G>A	ENST00000354646.2	-	20	4935	c.4497C>T	c.(4495-4497)caC>caT	p.H1499H	WNK3_ENST00000375169.3_Silent_p.H1452H|WNK3_ENST00000375159.2_Silent_p.H1499H	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1452					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GTTCTTCGTGGTGTGGTAAGC	0.458000													76	28					0	0	0.000781405	0	0
NLRC3	197358	broad.mit.edu	37	16	3614061	3614061	+	RNA	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr16:3614061C>T	ENST00000301749.7	-	0	1282				NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000324659.8_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACCTTGATCTCCTCCTCGTTA	0.607000													9	34					0	0	0.000274275	0	0
KDELR3	11015	broad.mit.edu	37	22	38870562	38870562	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr22:38870562C>T	ENST00000216014.4	+	2	298	c.126C>T	c.(124-126)ctC>ctT	p.L42L	KDELR3_ENST00000409006.3_Silent_p.L42L|KDELR3_ENST00000471268.1_3'UTR	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3	42				L -> P (in Ref. 4; BAD96650).	protein retention in ER lumen|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	ER retention sequence binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					TGTTTGCTCTCGTCTTCACCA	0.552000													46	53					0	0	0.000781405	0	0
SFTPB	6439	broad.mit.edu	37	2	85892775	85892775	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:85892775G>A	ENST00000393822.3	-	6	671	c.572C>T	c.(571-573)cCt>cTt	p.P191L	SFTPB_ENST00000409383.1_Missense_Mutation_p.P191L|SFTPB_ENST00000342375.3_Missense_Mutation_p.P179L|SFTPB_ENST00000519937.2_Missense_Mutation_p.P179L			P07988	PSPB_HUMAN	surfactant protein B	179					organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						GGGCAGCACAGGGAGGACGAG	0.677000													23	39					0	0	0.00106085	0	0
CSAD	51380	broad.mit.edu	37	12	53552463	53552463	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:53552463G>A	ENST00000267085.4	-	17	1628	c.1395C>T	c.(1393-1395)gcC>gcT	p.A465A	CSAD_ENST00000379846.1_Silent_p.A291A|CSAD_ENST00000444623.1_Silent_p.A438A|CSAD_ENST00000453446.2_Silent_p.A438A|CSAD_ENST00000379843.3_Silent_p.A291A	NM_001244706.1|NM_015989.4	NP_001231635.1|NP_057073.4	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	438					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	TGAGCACGGGGGCCACCTGTG	0.617000													4	5					0	0	0.00024832	0	0
NOS1AP	9722	broad.mit.edu	37	1	162325117	162325117	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:162325117G>A	ENST00000361897.5	+	7	1138	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K	NOS1AP_ENST00000530878.1_Missense_Mutation_p.E241K	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	246					regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			TGTAGGGAAGGAAGGAGGCTC	0.557000													24	92					0	0	0.000878237	0	0
ZNF831	128611	broad.mit.edu	37	20	57766753	57766753	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr20:57766753G>A	ENST00000371030.2	+	1	679	c.679G>A	c.(679-681)Gag>Aag	p.E227K		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	227						intracellular	nucleic acid binding|zinc ion binding			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)					CCCCAGACCAGAGGGCAGGGG	0.692000													15	43					0	0	0.000308642	0	0
CEP85L	387119	broad.mit.edu	37	6	118886834	118886834	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:118886834G>A	ENST00000368491.3	-	3	1499	c.878C>T	c.(877-879)tCc>tTc	p.S293F	CEP85L_ENST00000392500.3_Missense_Mutation_p.S296F|CEP85L_ENST00000368488.5_Missense_Mutation_p.S296F|CEP85L_ENST00000472713.1_5'UTR|CEP85L_ENST00000360290.3_Missense_Mutation_p.S191F|CEP85L_ENST00000419517.2_Missense_Mutation_p.S293F	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN	centrosomal protein 85kDa-like	293						centrosome											AGTCCTTACGGAAGGCTGAAT	0.463000													16	28					0	0	0.000566183	0	0
TTC37	9652	broad.mit.edu	37	5	94842678	94842678	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr5:94842678T>A	ENST00000358746.2	-	30	3350	c.3052A>T	c.(3052-3054)Act>Tct	p.T1018S	TTC37_ENST00000515176.1_5'UTR	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1018							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						ACATTGTAAGTATCTTGGTCT	0.313000													37	30					0	0	0.00111076	0	0
CCDC144A	9720	broad.mit.edu	37	17	16612455	16612455	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:16612455C>T	ENST00000443444.2	+	5	1224	c.1084C>T	c.(1084-1086)Cct>Tct	p.P362S	CCDC144A_ENST00000340621.5_Missense_Mutation_p.P361S|CCDC144A_ENST00000360524.8_Missense_Mutation_p.P362S|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.P362S|CCDC144A_ENST00000399273.1_Missense_Mutation_p.P362S|CCDC144A_ENST00000456009.1_Intron			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	362																	CGAGACATTTCCTGAACAAAA	0.378000													46	70					0	0	0.000781405	0	0
ZMYND8	23613	broad.mit.edu	37	20	45927622	45927622	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr20:45927622G>A	ENST00000311275.7	-	4	497	c.244C>T	c.(244-246)Ccg>Tcg	p.P82S	ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000352431.2_Missense_Mutation_p.P102S|ZMYND8_ENST00000446994.2_Intron|ZMYND8_ENST00000471951.2_Missense_Mutation_p.P102S|ZMYND8_ENST00000355972.4_Missense_Mutation_p.P82S|ZMYND8_ENST00000360911.3_Intron|ZMYND8_ENST00000540497.1_Intron|ZMYND8_ENST00000468376.2_Intron|ZMYND8_ENST00000536340.1_Missense_Mutation_p.P109S|ZMYND8_ENST00000262975.4_Missense_Mutation_p.P82S|ZMYND8_ENST00000396281.4_Intron|ZMYND8_ENST00000461685.1_Missense_Mutation_p.P102S|ZMYND8_ENST00000372023.3_Intron			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	82							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CCATCCTGCGGTACAACATCA	0.483000													46	103					0	0	0.000781405	0	0
GLB1	2720	broad.mit.edu	37	3	33065758	33065758	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:33065758C>T	ENST00000307363.5	-	11	1272	c.1128G>A	c.(1126-1128)aaG>aaA	p.K376K	GLB1_ENST00000399402.3_Silent_p.K346K|GLB1_ENST00000307377.8_Silent_p.K245K|GLB1_ENST00000445488.2_Silent_p.K424K|GLB1_ENST00000497796.1_5'UTR	NM_000404.2	NP_000395.2	P16278	BGAL_HUMAN	galactosidase, beta 1	376					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				CCAAAGTGACCTTTCCATATG	0.353000													7	12					0	0	0.000157383	0	0
MYOCD	93649	broad.mit.edu	37	17	12656204	12656204	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:12656204G>A	ENST00000425538.1	+	10	1799	c.1599G>A	c.(1597-1599)tgG>tgA	p.W533*	MYOCD_ENST00000343344.4_Nonsense_Mutation_p.W533*|MYOCD_ENST00000395988.1_Nonsense_Mutation_p.W437*	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	533					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AACTCACCTGGAAACTCCAGC	0.537000													17	34					0	0	0.00074312	0	0
ARHGAP5	394	broad.mit.edu	37	14	32562338	32562338	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr14:32562338C>T	ENST00000345122.3	+	2	2778	c.2463C>T	c.(2461-2463)atC>atT	p.I821I	ARHGAP5_ENST00000556611.1_Silent_p.I821I|ARHGAP5_ENST00000539826.2_Silent_p.I821I|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Silent_p.I821I	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	821					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TTGATAAAATCATTGGTGAAA	0.353000													15	64					0	0	0.000308642	0	0
ALDH3A1	218	broad.mit.edu	37	17	19646717	19646717	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:19646717C>T	ENST00000457500.2	-	2	551	c.222G>A	c.(220-222)atG>atA	p.M74I	ALDH3A1_ENST00000395555.3_Missense_Mutation_p.M74I|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.M74I|ALDH3A1_ENST00000485231.1_5'UTR|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.M74I|ALDH3A1_ENST00000494157.2_Start_Codon_SNP_p.M1I	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	74					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	GCTTCTGGATCATGTACTCGA	0.612000													43	81					0	0	0.000781405	0	0
CASP10	843	broad.mit.edu	37	2	202074282	202074282	+	Missense_Mutation	SNP	C	C	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:202074282C>A	ENST00000286186.6	+	9	1847	c.1412C>A	c.(1411-1413)cCa>cAa	p.P471Q	CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000313728.7_Missense_Mutation_p.P404Q|CASP10_ENST00000346817.5_Missense_Mutation_p.P428Q|CASP10_ENST00000448480.1_Missense_Mutation_p.P428Q|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000272879.5_Missense_Mutation_p.P471Q	NM_032977.3	NP_116759.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	471					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding	p.P471Q(2)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						AAATTGGTCCCAAGGTGAGAG	0.388000													7	110					0.000157383	0.000883323	0.000157383	1	0
PPL	5493	broad.mit.edu	37	16	4938190	4938190	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr16:4938190C>T	ENST00000345988.2	-	20	2516	c.2427G>A	c.(2425-2427)agG>agA	p.R809R	PPL_ENST00000590782.2_Silent_p.R807R	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	809					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CGAGAAGAGACCTTAGTTTTT	0.498000													13	49					0	0	0.000219431	0	0
SLC26A9	115019	broad.mit.edu	37	1	205895697	205895697	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:205895697G>A	ENST00000367135.3	-	12	1468	c.1355C>T	c.(1354-1356)cCc>cTc	p.P452L	SLC26A9_ENST00000367134.2_Missense_Mutation_p.P452L|SLC26A9_ENST00000340781.4_Missense_Mutation_p.P452L	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	452						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CAGGTAGTAGGGGTCGGTGAG	0.582000													30	66					0	0	0.00111076	0	0
TNIP2	79155	broad.mit.edu	37	4	2746636	2746636	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr4:2746636C>T	ENST00000510267.1	-	4	800	c.373G>A	c.(373-375)Gcc>Acc	p.A125T	TNIP2_ENST00000315423.7_Missense_Mutation_p.A232T|TNIP2_ENST00000503235.1_Intron|TNIP2_ENST00000505186.1_5'UTR	NM_001161527.1	NP_001154999.1	Q8NFZ5	TNIP2_HUMAN	TNFAIP3 interacting protein 2	232						cytosol	protein binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCCCTGCTGGCGTTGTAGCGC	0.612000													14	29					0	0	0.000219431	0	0
ACSL5	51703	broad.mit.edu	37	10	114177625	114177625	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:114177625C>T	ENST00000393081.1	+	14	1547	c.1240C>T	c.(1240-1242)Cgt>Tgt	p.R414C	ACSL5_ENST00000369410.3_Missense_Mutation_p.R196C|ACSL5_ENST00000433418.1_Missense_Mutation_p.R414C|ACSL5_ENST00000356116.1_Missense_Mutation_p.R470C|ACSL5_ENST00000354655.4_Missense_Mutation_p.R414C|ACSL5_ENST00000354273.4_Missense_Mutation_p.R414C|RP11-324O2.6_ENST00000424422.1_RNA	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	414					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.R470C(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		CGGAAGGGTTCGTGTAATTGT	0.473000													23	78					0	0	0.000720815	0	0
FAM129A	116496	broad.mit.edu	37	1	184764653	184764653	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:184764653C>T	ENST00000367511.3	-	14	2438	c.2245G>A	c.(2245-2247)Gaa>Aaa	p.E749K	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	749	Glu-rich.				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GGCTCTTTTTCCTCTTCTTCT	0.562000													24	129					0	0	0.000586117	0	0
PSG5	5673	broad.mit.edu	37	19	43688966	43688966	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:43688966C>T	ENST00000404580.1	-	2	486	c.398G>A	c.(397-399)gGa>gAa	p.G133E	PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000366175.3_Missense_Mutation_p.G133E|PSG5_ENST00000599812.1_Missense_Mutation_p.G133E|PSG5_ENST00000407356.1_Missense_Mutation_p.G133E|PSG5_ENST00000407568.1_Missense_Mutation_p.G133E|PSG5_ENST00000342951.6_Missense_Mutation_p.G133E			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	133	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TCCAGTTACTCCTCTAGTCCT	0.473000													44	148					0	0	0.000781405	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217156	150217156	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:150217156G>A	ENST00000313543.4	+	2	251	c.94G>A	c.(94-96)Gaa>Aaa	p.E32K		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	32							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTTGGAGAGGAAATCTTTGA	0.507000													36	39					0	0	0.00058488	0	0
IVD	3712	broad.mit.edu	37	15	40705279	40705279	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr15:40705279G>A	ENST00000249760.2	+	7	1120	c.777G>A	c.(775-777)aaG>aaA	p.K259K	IVD_ENST00000487418.2_Silent_p.K262K|IVD_ENST00000479013.2_Silent_p.K232K	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	259					leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		AAGACTGCAAGATTCCTGGTA	0.527000													11	38					0	0	0.000978159	0	0
BRINP1	1620	broad.mit.edu	37	9	121976304	121976304	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr9:121976304T>A	ENST00000265922.3	-	6	1276	c.815A>T	c.(814-816)gAg>gTg	p.E272V	DBC1_ENST00000373964.2_Missense_Mutation_p.E272V	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		272					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						CTGCGGAAACTCCTCGGCACA	0.557000													10	78					0	0	0.000673444	0	0
HIVEP3	59269	broad.mit.edu	37	1	42049328	42049328	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:42049328G>A	ENST00000372584.1	-	3	2155	c.1141C>T	c.(1141-1143)Ctg>Ttg	p.L381L	HIVEP3_ENST00000247584.5_Silent_p.L381L|HIVEP3_ENST00000429157.2_Silent_p.L381L|HIVEP3_ENST00000372583.1_Silent_p.L381L	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	381	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|Ser-rich.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CCTGGGCTCAGAAACGCCTGC	0.567000													11	41					0	0	0.000673444	0	0
PNMA2	10687	broad.mit.edu	37	8	26365944	26365944	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr8:26365944G>A	ENST00000522362.2	-	3	1222	c.328C>T	c.(328-330)Cta>Tta	p.L110L		NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	110					apoptosis	nucleolus	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		tctttttctagaaacaggttc	0.542000													9	44					0	0	0.000274275	0	0
MUC5B	727897	broad.mit.edu	37	11	1269208	1269208	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:1269208G>A	ENST00000447027.1	+	31	11165	c.11107G>A	c.(11107-11109)Gcc>Acc	p.A3703T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.A3700T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3700	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GACCACAACAGCCACTACGAC	0.652000													22	106					0	0	0.000878237	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77331198	77331198	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr16:77331198G>A	ENST00000282849.5	-	18	3207	c.2789C>T	c.(2788-2790)tCc>tTc	p.S930F		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	930					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						AGCCGGGCAGGAGAAAGCGTT	0.403000													25	40					0	0	0.000878237	0	0
DMBT1	1755	broad.mit.edu	37	10	124399588	124399588	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:124399588C>T	ENST00000368909.3	+	52	6694	c.6588C>T	c.(6586-6588)ttC>ttT	p.F2196F	DMBT1_ENST00000368955.3_Silent_p.F2186F|DMBT1_ENST00000368956.2_Silent_p.F1568F|DMBT1_ENST00000344338.3_Silent_p.F2186F|DMBT1_ENST00000338354.3_Silent_p.F2196F|DMBT1_ENST00000359586.6_Silent_p.F916F|DMBT1_ENST00000330163.4_Silent_p.F1568F	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2196	ZP.			F -> L (in Ref. 2; CAB56155).	epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ATTCCAACTTCCTCACAGCAG	0.522000													10	35					0	0	0.000978159	0	0
DEFB116	245930	broad.mit.edu	37	20	29891192	29891192	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr20:29891192T>A	ENST00000400549.1	-	2	131	c.132A>T	c.(130-132)caA>caT	p.Q44H		NM_001037731.1	NP_001032820.1	Q30KQ4	DB116_HUMAN	defensin, beta 116	44					defense response to bacterium	extracellular region				kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TGCACATGCCTTGGTAAAGCT	0.458000													42	270					0	0	0.000437636	0	0
HHLA2	11148	broad.mit.edu	37	3	108076967	108076967	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:108076967C>T	ENST00000357759.5	+	6	1376	c.962C>T	c.(961-963)tCg>tTg	p.S321L	HHLA2_ENST00000467562.1_Missense_Mutation_p.S257L|HHLA2_ENST00000489514.2_Missense_Mutation_p.S321L|HHLA2_ENST00000467761.1_Missense_Mutation_p.S321L|HHLA2_ENST00000491820.1_Missense_Mutation_p.S321L	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	321	Ig-like V-type 2.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						AATATTTCTTCGGATGAATAT	0.368000													14	33					0	0	0.000151284	0	0
EGFR	1956	broad.mit.edu	37	7	55214303	55214303	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:55214303C>T	ENST00000275493.2	+	4	606	c.429C>T	c.(427-429)atC>atT	p.I143I	EGFR_ENST00000442591.1_Silent_p.I143I|EGFR_ENST00000454757.2_Silent_p.I90I|EGFR_ENST00000342916.3_Silent_p.I143I|EGFR_ENST00000344576.2_Silent_p.I143I|EGFR_ENST00000455089.1_Intron|EGFR_ENST00000420316.2_Silent_p.I143I	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	143					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CCGCAGAAATCCTGCATGGCG	0.517000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			5	41					0	0	0.00116845	0	0
GPRC5C	55890	broad.mit.edu	37	17	72436352	72436352	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:72436352G>A	ENST00000392627.1	+	2	1698	c.572G>A	c.(571-573)cGg>cAg	p.R191Q	GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000392629.2_Missense_Mutation_p.R158Q|GPRC5C_ENST00000481232.1_Intron	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, family C, group 5, member C	146						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						TTCCTGGCCCGGAAGAACCAC	0.587000													38	59					0	0	0.000437636	0	0
USP6NL	9712	broad.mit.edu	37	10	11505704	11505704	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:11505704G>A	ENST00000379237.1	-	15	1617	c.1223C>T	c.(1222-1224)cCc>cTc	p.P408L	USP6NL_ENST00000277575.5_Missense_Mutation_p.P425L	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	408						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						CCTCCTGTGGGGCGCCCCGCT	0.687000													6	22					0	0	0.00116845	0	0
CPNE5	57699	broad.mit.edu	37	6	36762372	36762372	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:36762372G>A	ENST00000244751.2	-	7	1083	c.459C>T	c.(457-459)tcC>tcT	p.S153S		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	153	C2 2.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CGTACCCGTTGGACACAGCTG	0.592000													12	8					0	0	0.00136819	0	0
LDLR	3949	broad.mit.edu	37	19	11210922	11210922	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:11210922G>A	ENST00000558518.1	+	2	278	c.91G>A	c.(91-93)Gag>Aag	p.E31K	LDLR_ENST00000558013.1_Missense_Mutation_p.E31K|LDLR_ENST00000557933.1_Missense_Mutation_p.E31K|LDLR_ENST00000545707.1_Missense_Mutation_p.E31K|LDLR_ENST00000535915.1_Missense_Mutation_p.E31K|LDLR_ENST00000455727.2_Missense_Mutation_p.E31K	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	31	LDL-receptor class A 1.				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.E31K(1)|p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CGAAAGAAACGAGTTCCAGTG	0.532000													45	164					0	0	0.000781405	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64536712	64536712	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:64536712G>A	ENST00000498707.1	-	31	5067	c.4725C>T	c.(4723-4725)tcC>tcT	p.S1575S	ADAMTS9_ENST00000295903.4_Silent_p.S1547S	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1575	TSP type-1 13.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TGCGGTACCTGGAGCCTTCGC	0.488000													66	157					0	0	0.000781405	0	0
IQCA1	79781	broad.mit.edu	37	2	237233337	237233337	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:237233337C>T	ENST00000409907.3	-	19	2737	c.2463G>A	c.(2461-2463)agG>agA	p.R821R	IQCA1_ENST00000431676.2_Silent_p.R780R|IQCA1_ENST00000309507.5_Silent_p.R818R			Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	821							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						tcttttatttccttttccctt	0.428000													4	15					0	0	0.00024832	0	0
ACSM2B	348158	broad.mit.edu	37	16	20570742	20570742	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr16:20570742G>A	ENST00000329697.6	-	3	373	c.205C>T	c.(205-207)Ctg>Ttg	p.L69L	ACSM2B_ENST00000567001.1_Silent_p.L69L|ACSM2B_ENST00000565232.1_Silent_p.L69L|ACSM2B_ENST00000414188.2_Silent_p.L69L|ACSM2B_ENST00000565322.1_5'UTR	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	69					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						ACCCACCACAGGGCTGGGCTT	0.527000													7	14					0	0	0.000978159	0	0
SUSD4	55061	broad.mit.edu	37	1	223396907	223396907	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:223396907G>A	ENST00000343846.3	-	7	1761	c.1128C>T	c.(1126-1128)ctC>ctT	p.L376L	SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000366878.4_Silent_p.L376L|SUSD4_ENST00000454695.2_Silent_p.L216L			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	376						integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		CATAGGACGGGAGCATGACGG	0.617000													8	9					0	0	0.000157383	0	0
SH3TC1	54436	broad.mit.edu	37	4	8229706	8229706	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr4:8229706C>T	ENST00000539824.1	+	12	2431	c.2057C>T	c.(2056-2058)cCt>cTt	p.P686L	SH3TC1_ENST00000245105.3_Missense_Mutation_p.P762L			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	762							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CACAGCCTCCCTGCCCAAACT	0.692000													5	20					0	0	8.12818e-05	0	0
SYNE1	23345	broad.mit.edu	37	6	152847286	152847286	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:152847286C>T	ENST00000367255.5	-	5	755	c.154G>A	c.(154-156)Gat>Aat	p.D52N	SYNE1_ENST00000448038.1_Missense_Mutation_p.D52N|SYNE1_ENST00000367248.3_Missense_Mutation_p.D52N|SYNE1_ENST00000466159.2_Missense_Mutation_p.D52N|SYNE1_ENST00000367253.4_Missense_Mutation_p.D52N|SYNE1_ENST00000423061.1_Missense_Mutation_p.D52N|SYNE1_ENST00000413186.2_Missense_Mutation_p.D52N|SYNE1_ENST00000265368.4_Missense_Mutation_p.D52N|SYNE1_ENST00000341594.5_Missense_Mutation_p.D52N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	52	Actin-binding.|CH 1.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCAAAAAGATCGTCCACCACC	0.423000										HNSCC(10;0.0054)			20	41					0	0	0.00047179	0	0
CLCA3P	9629	broad.mit.edu	37	1	87104551	87104551	+	RNA	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:87104551C>T	ENST00000456587.1	-	0	294				CLCA3P_ENST00000466454.1_RNA																							ATGTTCCACTCGTATTACTGT	0.378000													11	7					0	0	0.00136819	0	0
NLRP12	91662	broad.mit.edu	37	19	54314204	54314204	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:54314204C>T	ENST00000324134.6	-	3	877	c.709G>A	c.(709-711)Ggg>Agg	p.G237R	NLRP12_ENST00000535162.1_Missense_Mutation_p.G237R|NLRP12_ENST00000391773.1_Missense_Mutation_p.G237R|NLRP12_ENST00000391772.1_Missense_Mutation_p.G237R|NLRP12_ENST00000391775.3_Missense_Mutation_p.G237R|NLRP12_ENST00000351894.4_Missense_Mutation_p.G237R|NLRP12_ENST00000345770.5_Missense_Mutation_p.G237R|NLRP12_ENST00000354278.3_Missense_Mutation_p.G237R	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	237	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AAGAGCTTCCCGTCCGCCCAG	0.582000													11	28					0	0	0.000978159	0	0
CSAD	51380	broad.mit.edu	37	12	53552462	53552462	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:53552462G>A	ENST00000267085.4	-	17	1629	c.1396C>T	c.(1396-1398)Ccc>Tcc	p.P466S	CSAD_ENST00000379846.1_Missense_Mutation_p.P292S|CSAD_ENST00000444623.1_Missense_Mutation_p.P439S|CSAD_ENST00000453446.2_Missense_Mutation_p.P439S|CSAD_ENST00000379843.3_Missense_Mutation_p.P292S	NM_001244706.1|NM_015989.4	NP_001231635.1|NP_057073.4	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	439					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	TTGAGCACGGGGGCCACCTGT	0.617000													4	5					0	0	0.00024832	0	0
PAM	5066	broad.mit.edu	37	5	102361011	102361011	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr5:102361011C>T	ENST00000438793.3	+	23	3132	c.2662C>T	c.(2662-2664)Cgg>Tgg	p.R888W	PAM_ENST00000348126.2_Missense_Mutation_p.R781W|PAM_ENST00000274392.9_Missense_Mutation_p.R790W|PAM_ENST00000379787.4_Missense_Mutation_p.R268W|PAM_ENST00000346918.2_Intron|PAM_ENST00000304400.7_Missense_Mutation_p.R888W|PAM_ENST00000455264.2_Intron	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	888					peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	CATATTTATTCGGTGGAAAAA	0.473000													56	24					0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179422801	179422801	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:179422801C>T	ENST00000589042.1	-	328	87504	c.87280G>A	c.(87280-87282)Gaa>Aaa	p.E29094K	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E27453K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E20221K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E20154K|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E20029K|TTN_ENST00000342992.6_Missense_Mutation_p.E26526K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27453	Fibronectin type-III 112.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAGTAATTTCGGTATTAAAT	0.428000													19	95					0	0	0.00152264	0	0
CC2D2A	57545	broad.mit.edu	37	4	15556783	15556783	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr4:15556783A>G	ENST00000424120.1	+	20	2829	c.2575A>G	c.(2575-2577)Aag>Gag	p.K859E	CC2D2A_ENST00000503292.1_Missense_Mutation_p.K859E|CC2D2A_ENST00000389652.5_Missense_Mutation_p.K810E|CC2D2A_ENST00000413206.1_Missense_Mutation_p.K859E			Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	859					cell projection organization	cilium|microtubule basal body		p.K810Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						AGCAGAGTCCAAGCTCGACCC	0.468000													8	33					0	0	0.000274275	0	0
OR2T10	127069	broad.mit.edu	37	1	248756644	248756644	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:248756644G>A	ENST00000330500.2	-	1	456	c.426C>T	c.(424-426)ctC>ctT	p.L142L		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGCCAGGAGGAGACATACCC	0.562000													31	62					0	0	0.000339439	0	0
CDRT1	374286	broad.mit.edu	37	17	15517324	15517324	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:15517324G>A	ENST00000455584.2	-	9	1667	c.1624C>T	c.(1624-1626)Cgg>Tgg	p.R542W	CDRT1_ENST00000395906.3_Missense_Mutation_p.R232W																							GATATACACCGGAGTGAATTC	0.488000													25	80					0	0	0.000720815	0	0
STON1	11037	broad.mit.edu	37	2	48809178	48809178	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:48809178C>T	ENST00000309835.3	+	1	1416	c.1406C>T	c.(1405-1407)tCc>tTc	p.S469F	STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.S469F|STON1_ENST00000404752.1_Missense_Mutation_p.S469F|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.S469F|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.S469F|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.S469F|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.S469F|STON1_ENST00000406226.1_Missense_Mutation_p.S469F					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CGAGATGAATCCTATTATGAG	0.368000													46	55					0	0	0.000781405	0	0
EYA1	2138	broad.mit.edu	37	8	72127949	72127949	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr8:72127949C>G	ENST00000340726.3	-	15	2014	c.1375G>C	c.(1375-1377)Gct>Cct	p.A459P	EYA1_ENST00000388743.2_Missense_Mutation_p.A458P|EYA1_ENST00000388742.4_Missense_Mutation_p.A459P|EYA1_ENST00000419131.1_Missense_Mutation_p.A424P|EYA1_ENST00000388740.3_Missense_Mutation_p.A426P|EYA1_ENST00000388741.2_Missense_Mutation_p.A425P|EYA1_ENST00000303824.7_Missense_Mutation_p.A453P	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	459					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TCCCTCTTAGCTGGACCAAGC	0.473000													7	26					0	0	8.12818e-05	0	0
CCDC141	285025	broad.mit.edu	37	2	179730571	179730571	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:179730571G>A	ENST00000420890.2	-	17	2764	c.2647C>T	c.(2647-2649)Cgt>Tgt	p.R883C	CCDC141_ENST00000295723.5_Missense_Mutation_p.R308C	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	308							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GCTTTGGCACGCCACTTCATG	0.527000													56	206					0	0	0.000781405	0	0
MYO9A	4649	broad.mit.edu	37	15	72227785	72227785	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr15:72227785G>A	ENST00000356056.5	-	17	2891	c.2419C>T	c.(2419-2421)Cgc>Tgc	p.R807C	MYO9A_ENST00000424560.1_Missense_Mutation_p.R807C|MYO9A_ENST00000444904.1_Missense_Mutation_p.R788C|MYO9A_ENST00000566885.1_Missense_Mutation_p.R427C|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Missense_Mutation_p.R807C	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	807					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTGCTCTGGCGAATCCCAGTT	0.388000													64	29					0	0	0.000781405	0	0
FAM188B	84182	broad.mit.edu	37	7	30880418	30880418	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:30880418C>T	ENST00000265299.6	+	9	1476	c.1399C>T	c.(1399-1401)Cta>Tta	p.L467L	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	467										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGGCTGTGTCCTACAGAAACT	0.507000													18	76					0	0	0.000229342	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24931540	24931540	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr16:24931540G>A	ENST00000289968.6	-	20	2626	c.2557C>T	c.(2557-2559)Cct>Tct	p.P853S	ARHGAP17_ENST00000303665.5_Missense_Mutation_p.P775S|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	853					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		TGCATTTCAGGAAAGATGCTG	0.527000													24	85					0	0	0.00047179	0	0
ERCC3	2071	broad.mit.edu	37	2	128029016	128029016	+	Missense_Mutation	SNP	G	G	A	rs139049289		TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:128029016G>A	ENST00000493187.2	-	12	2112	c.1649C>T	c.(1648-1650)tCg>tTg	p.S550L	ERCC3_ENST00000285398.2_Missense_Mutation_p.S614L			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	614	Helicase C-terminal.				cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CAGATCAAACGAAGTGTCACC	0.423000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				38	53					0	0	0.000374591	0	0
MYH7B	57644	broad.mit.edu	37	20	33586421	33586421	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr20:33586421G>A	ENST00000262873.7	+	32	4200	c.4108G>A	c.(4108-4110)Gag>Aag	p.E1370K		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1328						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CCAGCTAGAGGAGGAAAGCAA	0.632000													10	41					0	0	0.000673444	0	0
CSHL1	1444	broad.mit.edu	37	17	61987459	61987459	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:61987459C>T	ENST00000450719.3	-	3	489	c.252G>A	c.(250-252)gaG>gaA	p.E84E	CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000392824.4_3'UTR|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000309894.5_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000561003.1_Silent_p.E95E|CSHL1_ENST00000346606.6_Intron			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	0						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						AGCAGTGTTTCTCTCCCCCAG	0.562000													17	58					0	0	0.00074312	0	0
SVOPL	136306	broad.mit.edu	37	7	138333801	138333801	+	Missense_Mutation	SNP	G	G	A	rs143755972	byFrequency	TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:138333801G>A	ENST00000421622.1	-	4	464	c.256C>T	c.(256-258)Cgc>Tgc	p.R86C	SVOPL_ENST00000436657.1_Missense_Mutation_p.R54C|SVOPL_ENST00000419765.3_Missense_Mutation_p.R206C|SVOPL_ENST00000288513.5_Missense_Mutation_p.R54C			Q8N434	SVOPL_HUMAN	SVOP-like	206						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						GAGGCGACGCGAATGAGCCAG	0.612000													17	39					0	0	0.000566183	0	0
SLC22A1	6580	broad.mit.edu	37	6	160557602	160557602	+	Silent	SNP	C	C	G			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:160557602C>G	ENST00000366963.4	+	6	1128	c.981C>G	c.(979-981)acC>acG	p.T327T	SLC22A1_ENST00000457470.2_Silent_p.T327T|SLC22A1_ENST00000324965.4_Silent_p.T327T	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	327						basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		AGGATGTCACCGAAAAGCTGA	0.607000													21	57					0	0	0.000295444	0	0
ADGRG6	57211	broad.mit.edu	37	6	142758584	142758584	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:142758584C>T	ENST00000230173.6	+	23	3809	c.3333C>T	c.(3331-3333)ttC>ttT	p.F1111F	GPR126_ENST00000296932.8_Silent_p.F1083F|GPR126_ENST00000367608.2_Silent_p.F1083F|GPR126_ENST00000367609.3_Silent_p.F1111F	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	1111					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		TATTTATATTCATCTTCCACT	0.338000													15	47					0	0	0.000566183	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187693433	187693433	+	Missense_Mutation	SNP	T	T	G			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:187693433T>G	ENST00000295131.2	-	9	1219	c.1180A>C	c.(1180-1182)Act>Cct	p.T394P		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	394					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TTTTTCCAAGTTAAAGGGTTA	0.348000													16	19					0	0	0.000422831	0	0
MROH2B	133558	broad.mit.edu	37	5	41019027	41019027	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr5:41019027C>T	ENST00000399564.4	-	25	2985	c.2535G>A	c.(2533-2535)ctG>ctA	p.L845L	MROH2B_ENST00000506092.2_Silent_p.L400L	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		CTTCACTTTTCAGATTTTCCA	0.473000													16	27					0	0	0.000422831	0	0
ANKS1B	56899	broad.mit.edu	37	12	99640266	99640266	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:99640266C>T	ENST00000547776.2	-	13	2132	c.2133G>A	c.(2131-2133)gaG>gaA	p.E711E	ANKS1B_ENST00000547010.1_Silent_p.E291E|ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000329257.7_Silent_p.E711E	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	711						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TACAGGCTCTCTCCACAAATC	0.468000													12	37					0	0	0.00136819	0	0
MOGAT2	80168	broad.mit.edu	37	11	75439858	75439858	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:75439858C>T	ENST00000526712.1	+	4	1201	c.428C>T	c.(427-429)tCc>tTc	p.S143F	MOGAT2_ENST00000198801.5_Missense_Mutation_p.S225F			Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	225					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					CCAATCTTCTCCTTCGGGGAG	0.537000													20	58					0	0	0.000295444	0	0
DCC	1630	broad.mit.edu	37	18	50985644	50985644	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr18:50985644G>A	ENST00000442544.2	+	24	4051	c.3435G>A	c.(3433-3435)caG>caA	p.Q1145Q	DCC_ENST00000581580.1_Silent_p.Q780Q	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1145					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGGGCAGCCAGAAGGACCTCC	0.488000													25	15					0	0	0.00106085	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44805846	44805846	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:44805846C>T	ENST00000309315.4	+	17	2449	c.2326C>T	c.(2326-2328)Ccg>Tcg	p.P776S	ZMIZ2_ENST00000265346.7_Missense_Mutation_p.P750S|ZMIZ2_ENST00000463931.1_3'UTR|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.P776S|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.P744S|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.P718S	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	776	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TGAGTTCACCCCGGGACCACC	0.622000													22	34					0	0	0.00152264	0	0
FGD4	121512	broad.mit.edu	37	12	32755164	32755164	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:32755164T>A	ENST00000427716.2	+	7	1330	c.906T>A	c.(904-906)taT>taA	p.Y302*	FGD4_ENST00000531134.1_Nonsense_Mutation_p.Y387*|FGD4_ENST00000546442.1_Nonsense_Mutation_p.Y209*|FGD4_ENST00000534526.2_Nonsense_Mutation_p.Y439*|FGD4_ENST00000266482.3_Nonsense_Mutation_p.Y54*|FGD4_ENST00000381025.3_Nonsense_Mutation_p.Y54*|FGD4_ENST00000525053.1_Nonsense_Mutation_p.Y414*	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	302	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					ATGGAGAATATGTGAAAGGAT	0.348000													29	212					0	0	0.000339439	0	0
TRIM4	89122	broad.mit.edu	37	7	99490188	99490188	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:99490188G>A	ENST00000355947.2	-	7	1230	c.1101C>T	c.(1099-1101)ccC>ccT	p.P367P	TRIM4_ENST00000349062.2_Silent_p.P341P	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	367	B30.2/SPRY.		P -> S (in dbSNP:rs35432946).		protein trimerization	cytoplasm|plasma membrane	zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				CCAGAACACAGGGTAAGTGCT	0.478000													20	58					0	0	0.00121646	0	0
IRAK2	3656	broad.mit.edu	37	3	10280549	10280549	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:10280549G>A	ENST00000256458.4	+	12	1681	c.1591G>A	c.(1591-1593)Gac>Aac	p.D531N		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	531					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|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	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity	p.D531N(2)		breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						GGAAACAGACGACGTTGACAA	0.597000													18	36					0	0	0.000229342	0	0
KALRN	8997	broad.mit.edu	37	3	124415066	124415066	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:124415066G>A	ENST00000360013.3	+	54	7790	c.7663G>A	c.(7663-7665)Ggg>Agg	p.G2555R	KALRN_ENST00000291478.4_Missense_Mutation_p.G858R|KALRN_ENST00000428018.2_Missense_Mutation_p.G826R	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2554	Ig-like C2-type.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AAATGACCACGGGACCACATC	0.413000													8	36					0	0	0.000157383	0	0
GSTCD	79807	broad.mit.edu	37	4	106766630	106766630	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr4:106766630C>T	ENST00000515279.1	+	12	2018	c.1798C>T	c.(1798-1800)Cga>Tga	p.R600*	GSTCD_ENST00000515255.1_3'UTR|GSTCD_ENST00000394728.3_Nonsense_Mutation_p.R600*|GSTCD_ENST00000360505.5_Nonsense_Mutation_p.R600*|GSTCD_ENST00000394730.3_Nonsense_Mutation_p.R513*			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	600						cytoplasm	rRNA methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		GGATCTGGATCGAGCAAGAGC	0.458000													12	35					0	0	0.00136819	0	0
GRM3	2913	broad.mit.edu	37	7	86394591	86394591	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:86394591C>T	ENST00000361669.2	+	2	1229	c.130C>T	c.(130-132)Ctg>Ttg	p.L44L	GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Silent_p.L42L|GRM3_ENST00000536043.1_Intron|GRM3_ENST00000439827.1_Silent_p.L44L	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	44					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TTTAGGGGGCCTGTTTCCTAT	0.413000													43	95					0	0	0.00148497	0	0
UPB1	51733	broad.mit.edu	37	22	24916425	24916425	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr22:24916425C>T	ENST00000413389.2	+	7	2251	c.658C>T	c.(658-660)Cga>Tga	p.R220*	UPB1_ENST00000498140.1_3'UTR|UPB1_ENST00000326010.5_Nonsense_Mutation_p.R288*			Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	288	CN hydrolase.				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					CGCCATCAATCGAGTGGGCAC	0.602000													4	11					0	0	0.00024832	0	0
FAM154A	158297	broad.mit.edu	37	9	18928465	18928465	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr9:18928465G>A	ENST00000380534.4	-	4	1289	c.1010C>T	c.(1009-1011)tCt>tTt	p.S337F	FAM154A_ENST00000380530.1_3'UTR|FAM154A_ENST00000542071.1_Missense_Mutation_p.S145F	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	337										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		GGTGGTGGAAGAGCCTTCAAA	0.592000													34	28					0	0	0.00111076	0	0
BCL2L12	83596	broad.mit.edu	37	19	50169131	50169131	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:50169131C>T	ENST00000246785.3	+	1	309	c.51C>T	c.(49-51)ttC>ttT	p.F17F	BCL2L12_ENST00000441864.2_Silent_p.F17F|IRF3_ENST00000377139.3_5'UTR|BCL2L12_ENST00000246784.3_Silent_p.F17F	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	17					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		TTTTGGGTTTCCGGCCAGAGG	0.572000													17	48					0	0	0.000958276	0	0
MAMDC4	158056	broad.mit.edu	37	9	139754341	139754341	+	Missense_Mutation	SNP	A	A	C			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr9:139754341A>C	ENST00000445819.1	+	28	3484	c.3434A>C	c.(3433-3435)aAc>aCc	p.N1145T	MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Missense_Mutation_p.N1066T			Q6UXC1	AEGP_HUMAN	MAM domain containing 4	1145					protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CCCACAGGGAACACAGCCGCA	0.652000													6	27					0	0	0.000157383	0	0
OR5H15	403274	broad.mit.edu	37	3	97888154	97888154	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:97888154G>A	ENST00000356526.2	+	1	611	c.611G>A	c.(610-612)gGt>gAt	p.G204D		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						ATTTTCTCAGGTTCAATTCAG	0.323000													7	16					0	0	0.000274275	0	0
CD1B	910	broad.mit.edu	37	1	158299806	158299806	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:158299806G>A	ENST00000368168.3	-	3	550	c.443C>T	c.(442-444)tCa>tTa	p.S148L		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	148					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					AGGCACACATGAAGCATTCTT	0.478000													64	141					0	0	0.000781405	0	0
C16orf11	146325	broad.mit.edu	37	16	613648	613648	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr16:613648C>T	ENST00000409413.3	+	2	633	c.354C>T	c.(352-354)gtC>gtT	p.V118V		NM_145270.2	NP_660313.1	P0CG20	CP011_HUMAN	chromosome 16 open reading frame 11	118	Pro-rich.									central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						ACCTCGTGGTCGCCGACATCC	0.741000													3	2					0	0	6.4e-05	0	0
SCN10A	6336	broad.mit.edu	37	3	38753871	38753871	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:38753871G>A	ENST00000449082.2	-	22	3869	c.3870C>T	c.(3868-3870)atC>atT	p.I1290I		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1290					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGAGCCAGAAGATGAGGCAGA	0.527000													13	39					0	0	0.000151284	0	0
KCNC4	3749	broad.mit.edu	37	1	110765757	110765757	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:110765757A>G	ENST00000369787.3	+	2	877	c.850A>G	c.(850-852)Atc>Gtc	p.I284V	KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000413138.3_Missense_Mutation_p.I284V|KCNC4_ENST00000438661.2_Missense_Mutation_p.I284V	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	284					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCTGACCTACATCGAGGGCGT	0.567000													35	36					0	0	0.000589545	0	0
CNTD1	124817	broad.mit.edu	37	17	40958834	40958834	+	Missense_Mutation	SNP	A	A	C			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:40958834A>C	ENST00000588408.1	+	5	999	c.723A>C	c.(721-723)caA>caC	p.Q241H	CNTD1_ENST00000588527.1_Missense_Mutation_p.Q158H|CNTD1_ENST00000315066.5_3'UTR	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	241										central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GTCAGCTGCAAGGGTAAGACA	0.517000													10	11					0	0	0.000442599	0	0
CDK18	5129	broad.mit.edu	37	1	205493436	205493436	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:205493436G>A	ENST00000360066.2	+	4	651	c.350G>A	c.(349-351)aGc>aAc	p.S117N	CDK18_ENST00000429964.2_Missense_Mutation_p.S117N|CDK18_ENST00000506784.1_Missense_Mutation_p.S147N|CDK18_ENST00000509056.1_Intron	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	115							ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						CAGATGGAGAGCCCAGATCTG	0.617000											OREG0014156	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	102					0	0	0.000586117	0	0
TOP3A	7156	broad.mit.edu	37	17	18183948	18183948	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:18183948G>A	ENST00000321105.5	-	17	2260	c.2046C>T	c.(2044-2046)ttC>ttT	p.F682F	TOP3A_ENST00000542570.1_Silent_p.F587F|TOP3A_ENST00000540524.1_Silent_p.F212F	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	682					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GACACTCTGGGAAACCCATGC	0.577000													15	33					0	0	0.00074312	0	0
GML	2765	broad.mit.edu	37	8	143927990	143927990	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr8:143927990G>A	ENST00000220940.1	+	4	451	c.361G>A	c.(361-363)Gac>Aac	p.D121N		NM_002066.2	NP_002057.1	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule like	121	UPAR/Ly6.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane				NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TCTTGAAAGGGACATGTTACC	0.438000													27	39					0	0	0.000339439	0	0
OR2T33	391195	broad.mit.edu	37	1	248436220	248436220	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:248436220C>T	ENST00000318021.2	-	1	918	c.897G>A	c.(895-897)ctG>ctA	p.L299L		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCCACCGTTTCAGGGCTCCCT	0.448000													66	152					0	0	0.000781405	0	0
UCP3	7352	broad.mit.edu	37	11	73715038	73715038	+	Missense_Mutation	SNP	G	G	C			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:73715038G>C	ENST00000314032.4	-	6	1210	c.658C>G	c.(658-660)Cac>Gac	p.H220D	UCP3_ENST00000348534.4_Missense_Mutation_p.H118D|UCP3_ENST00000426995.2_Missense_Mutation_p.H220D	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	220					mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					GAGACAAAGTGGCAGGGGAAG	0.532000													6	20					0	0	0.00116845	0	0
MORN5	254956	broad.mit.edu	37	9	124929181	124929181	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr9:124929181G>A	ENST00000536616.1	+	2	220	c.182G>A	c.(181-183)gGa>gAa	p.G61E	MORN5_ENST00000486801.1_3'UTR|MORN5_ENST00000373764.3_Missense_Mutation_p.G61E			Q5VZ52	MORN5_HUMAN	MORN repeat containing 5	61										endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						TGGGAAAACGGATTGGCCATA	0.547000													4	21					0	0	0.000602214	0	0
ZNF394	84124	broad.mit.edu	37	7	99091810	99091810	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:99091810G>A	ENST00000337673.6	-	3	1231	c.1028C>T	c.(1027-1029)tCc>tTc	p.S343F	ZNF394_ENST00000426306.2_3'UTR|ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	343					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AAAAAGGCTGGAATGATGGAA	0.473000													64	73					0	0	0.000781405	0	0
MYH1	4619	broad.mit.edu	37	17	10408497	10408497	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:10408497C>T	ENST00000226207.5	-	21	2512	c.2418G>A	c.(2416-2418)caG>caA	p.Q806Q	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	806	IQ.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CCACCATTTTCTGGTACTCCA	0.428000													23	45					0	0	0.000586117	0	0
MORN1	79906	broad.mit.edu	37	1	2268180	2268180	+	Silent	SNP	G	G	A	rs150260968	byFrequency	TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:2268180G>A	ENST00000378531.3	-	11	1319	c.1146C>T	c.(1144-1146)ttC>ttT	p.F382F	MORN1_ENST00000606372.1_5'UTR	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	382										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		CCAGGAACAGGAAGGGGTGGT	0.682000													13	10					0	0	0.00136819	0	0
DLK1	8788	broad.mit.edu	37	14	101200851	101200851	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr14:101200851G>A	ENST00000341267.4	+	5	1012	c.770G>A	c.(769-771)cGt>cAt	p.R257H	DLK1_ENST00000331224.6_Intron	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	257					multicellular organismal development	extracellular space|integral to membrane|soluble fraction		p.R257H(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				CAGGTCACCCGTCTGCCCAGC	0.652000													12	45					0	0	0.000978159	0	0
DHX30	22907	broad.mit.edu	37	3	47882444	47882444	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:47882444C>T	ENST00000446256.2	+	8	899	c.327C>T	c.(325-327)tcC>tcT	p.S109S	DHX30_ENST00000457607.1_Silent_p.S176S|DHX30_ENST00000445061.1_Silent_p.S148S|DHX30_ENST00000348968.4_Silent_p.S120S	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	148	DRBM.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GCTTTGGCTCCCCTGCCGACA	0.602000													7	17					0	0	0.000157383	0	0
CAPN5	726	broad.mit.edu	37	11	76804825	76804825	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:76804825C>T	ENST00000278559.3	+	3	452	c.263C>T	c.(262-264)tCg>tTg	p.S88L	CAPN5_ENST00000529629.1_Missense_Mutation_p.S88L|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000456580.2_Missense_Mutation_p.S128L	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	88	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						GCAGCCTGCTCGTCACTTGCC	0.662000													12	9					0	0	0.00136819	0	0
ABCA12	26154	broad.mit.edu	37	2	215910714	215910714	+	Missense_Mutation	SNP	T	T	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:215910714T>A	ENST00000272895.7	-	7	938	c.719A>T	c.(718-720)aAg>aTg	p.K240M		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	240					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.K240T(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)		AAACACTATCTTCTGATTGTT	0.363000													13	43					0	0	0.000219431	0	0
TACC2	10579	broad.mit.edu	37	10	123845037	123845037	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:123845037G>A	ENST00000369005.1	+	4	3362	c.3022G>A	c.(3022-3024)Gaa>Aaa	p.E1008K	TACC2_ENST00000515603.1_Missense_Mutation_p.E1008K|TACC2_ENST00000453444.2_Missense_Mutation_p.E1008K|TACC2_ENST00000515273.1_Missense_Mutation_p.E1008K|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.E1008K|TACC2_ENST00000358010.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1008						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CAGCCAGCATGAAGAAGCATG	0.532000													9	21					0	0	0.000274275	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555292	44555292	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr18:44555292C>T	ENST00000330682.2	-	1	1157	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	308	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						AAAGCAGCTTCCTCCTGGAGC	0.637000													31	872					0	0	0.001512	0	0
ABCA2	20	broad.mit.edu	37	9	139903069	139903069	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr9:139903069G>A	ENST00000265662.5	-	48	7221	c.7074C>T	c.(7072-7074)ttC>ttT	p.F2358F	ABCA2_ENST00000371605.3_Silent_p.F2357F|ABCA2_ENST00000341511.6_Silent_p.F2358F			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2357					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CAAAGTTCACGAACACCTGGT	0.682000													13	7					0	0	0.00136819	0	0
TLR4	7099	broad.mit.edu	37	9	120476725	120476725	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr9:120476725G>A	ENST00000355622.6	+	3	2420	c.2319G>A	c.(2317-2319)aaG>aaA	p.K773K	TLR4_ENST00000394487.4_Silent_p.K733K|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	773	TIR.				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TCCTGCAGAAGGTGGAGAAGA	0.542000													11	52					0	0	0.000673444	0	0
GRIA3	2892	broad.mit.edu	37	X	122613938	122613938	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chrX:122613938G>A	ENST00000542149.1	+	15	2628	c.2464G>A	c.(2464-2466)Gaa>Aaa	p.E822K	GRIA3_ENST00000264357.5_Intron|GRIA3_ENST00000371251.1_Intron|GRIA3_ENST00000371256.5_Silent_p.L783L			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	0					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	TTGCAGTATTGAAACTCAGTG	0.383000													32	16					0	0	0.000953801	0	0
MAGEE1	57692	broad.mit.edu	37	X	75648631	75648631	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chrX:75648631C>T	ENST00000361470.2	+	1	586	c.308C>T	c.(307-309)tCc>tTc	p.S103F		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	103						dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCTGGCACCTCCGTGCTGCCC	0.687000													11	0					0	0	0.00136819	0	0
FHL3	2275	broad.mit.edu	37	1	38465046	38465046	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:38465046G>A	ENST00000373016.3	-	2	207	c.39C>T	c.(37-39)tcC>tcT	p.S13S	FHL3_ENST00000485803.1_Intron	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN	four and a half LIM domains 3	13					muscle organ development		zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GTCCATACAGGGACTCGTTGC	0.542000													4	10					0	0	0.000602214	0	0
SOCS2	8835	broad.mit.edu	37	12	93968909	93968909	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:93968909C>T	ENST00000340600.2	+	3	1149	c.551C>T	c.(550-552)cCa>cTa	p.P184L	SOCS2_ENST00000549122.1_Missense_Mutation_p.P184L|SOCS2_ENST00000549206.1_Missense_Mutation_p.P184L|SOCS2_ENST00000548537.1_3'UTR|SOCS2_ENST00000536696.2_Missense_Mutation_p.P184L|SOCS2_ENST00000551556.1_Missense_Mutation_p.P184L	NM_001270468.1|NM_001270469.1|NM_001270471.1|NM_003877.4	NP_001257397.1|NP_001257398.1|NP_001257400.1|NP_003868.1	O14508	SOCS2_HUMAN	suppressor of cytokine signaling 2	184	SOCS box.				anti-apoptosis|growth hormone receptor signaling pathway|JAK-STAT cascade|negative regulation of signal transduction|regulation of cell growth|response to estradiol stimulus	cytoplasm	growth hormone receptor binding|insulin-like growth factor receptor binding|JAK pathway signal transduction adaptor activity|prolactin receptor binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)	14						CTGCCTTTACCAACAAGACTA	0.408000													5	32					0	0	0.000602214	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106558471	106558471	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:106558471C>T	ENST00000526355.1	-	8	2471	c.2003G>A	c.(2002-2004)cGa>cAa	p.R668Q	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.R699Q|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.R689Q	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	668					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		ACTTTCTTCTCGTTTTAATAA	0.403000													43	52					0	0	0.000374591	0	0
MOB3A	126308	broad.mit.edu	37	19	2076834	2076834	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:2076834G>A	ENST00000357066.3	-	4	979	c.600C>T	c.(598-600)atC>atT	p.I200I	MOB3A_ENST00000592280.1_Silent_p.I200I|MOB3A_ENST00000592143.1_Intron	NM_130807.2	NP_570719.1	Q96BX8	MOL2A_HUMAN	MOB kinase activator 3A	200						intracellular	metal ion binding										CCTTGGTGTCGATGAGGCCGA	0.637000													8	4					0	0	0.000157383	0	0
DMP1	1758	broad.mit.edu	37	4	88583543	88583543	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr4:88583543G>A	ENST00000339673.6	+	6	712	c.613G>A	c.(613-615)Gga>Aga	p.G205R	DMP1_ENST00000282479.7_Missense_Mutation_p.G189R|RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	205					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		GAGCAGCCATGGAGACGGCTC	0.572000													8	34					0	0	0.000274275	0	0
VHL	7428	broad.mit.edu	37	3	10188264	10188264	+	Missense_Mutation	SNP	T	T	A	rs5030833		TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:10188264T>A	ENST00000256474.2	+	2	1247	c.407T>A	c.(406-408)tTt>tAt	p.F136Y	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	136	Involved in binding to CCT complex.		F -> C (in pheochromocytoma and VHLD; type II; dbSNP:rs5030833).|F -> S (in VHLD).|F -> Y (in VHLD).		anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.F136S(2)|p.F136C(1)|p.F136fs*8(1)|p.F136del(1)|p.?fs(1)|p.N131fs*7(1)|p.L135fs*7(1)|p.E134fs*7(1)|p.F136Y(1)|p.F136fs*23(1)|p.V137fs*7(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		ACTGAATTATTTGTGCCATCT	0.428000		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia				38	76					0	0	0.00170553	0	0
FCGBP	8857	broad.mit.edu	37	19	40433468	40433468	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:40433468G>A	ENST00000221347.6	-	2	808	c.801C>T	c.(799-801)ttC>ttT	p.F267F		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	267	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGGCCACAACGAAGGCCAAAT	0.597000													12	14					0	0	0.000151284	0	0
RIMS2	9699	broad.mit.edu	37	8	104778587	104778587	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr8:104778587G>A	ENST00000406091.3	+	3	520	c.520G>A	c.(520-522)Gag>Aag	p.E174K		NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	205	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AAGAAATGAGGAGGCACCTCA	0.443000										HNSCC(12;0.0054)			6	48					0	0	8.12818e-05	0	0
FAM194A	131831	broad.mit.edu	37	3	150403761	150403761	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:150403761C>G	ENST00000295910.6	-	5	710	c.658G>C	c.(658-660)Gag>Cag	p.E220Q	FAM194A_ENST00000491361.1_Missense_Mutation_p.E74Q	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	220										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ACCTCCAGCTCATATAAAATA	0.333000													17	72					0	0	0.00047179	0	0
LRRC56	115399	broad.mit.edu	37	11	541584	541584	+	Missense_Mutation	SNP	G	G	C			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:541584G>C	ENST00000270115.7	+	5	725	c.225G>C	c.(223-225)gaG>gaC	p.E75D		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	75										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGACGCTGGAGATGTGTGTGG	0.637000													8	28					0	0	0.000442599	0	0
IGHE	3497	broad.mit.edu	37	14	106066504	106066504	+	RNA	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr14:106066504C>T	ENST00000577108.1	-	0	42				IGHE_ENST00000576077.1_RNA																							TGCTCCCATTCGGCCCTGGTC	0.632000													29	36					0	0	0.000878237	0	0
COL22A1	169044	broad.mit.edu	37	8	139833411	139833411	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr8:139833411C>T	ENST00000303045.6	-	7	1659	c.1213G>A	c.(1213-1215)Ggc>Agc	p.G405S	COL22A1_ENST00000435777.1_Missense_Mutation_p.G405S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	405	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AGGCGCTTGCCAATCACAGTC	0.597000										HNSCC(7;0.00092)			9	24					0	0	0.000978159	0	0
SHANK2	22941	broad.mit.edu	37	11	70331907	70331907	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:70331907C>T	ENST00000338508.4	-	32	4493	c.4494G>A	c.(4492-4494)cgG>cgA	p.R1498R	SHANK2_ENST00000409161.1_Silent_p.R901R|SHANK2_ENST00000449833.2_Silent_p.R902R|SHANK2_ENST00000423696.2_Silent_p.R1118R			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1118					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CGCTGCTACTCCGGCTGTCCA	0.592000													28	28					0	0	0.00106085	0	0
GCG	2641	broad.mit.edu	37	2	163000618	163000618	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:163000618G>A	ENST00000418842.2	-	5	709	c.455C>T	c.(454-456)tCt>tTt	p.S152F	GCG_ENST00000375497.3_Missense_Mutation_p.S152F	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	152					cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14					Exenatide(DB01276)|Phentolamine(DB00692)	CATCTCATCAGAGAAAGAACC	0.393000													18	74					0	0	0.00121646	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113558909	113558909	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:113558909G>A	ENST00000284601.3	-	1	211	c.143C>T	c.(142-144)tCt>tTt	p.S48F		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	48					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GTCTTCAGAAGAATCAGAACC	0.373000													52	69					0	0	0.000781405	0	0
VPS54	51542	broad.mit.edu	37	2	64147595	64147595	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:64147595C>T	ENST00000354504.3	-	11	2166	c.1577G>A	c.(1576-1578)aGa>aAa	p.R526K	VPS54_ENST00000409558.3_Missense_Mutation_p.R667K|VPS54_ENST00000272322.4_Missense_Mutation_p.R679K			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	679				E -> K (in Ref. 1; AAF37319).	protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						CTTGGTTTTTCTCTCTTCATG	0.348000													23	36					0	0	0.000586117	0	0
CEACAM18	729767	broad.mit.edu	37	19	51986421	51986421	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:51986421A>G	ENST00000396477.4	+	4	845	c.824A>G	c.(823-825)aAc>aGc	p.N275S	CEACAM18_ENST00000451626.1_Missense_Mutation_p.N336S	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	336						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TCCCTCCTGAACTTCTCAGAT	0.517000													26	84					0	0	0.00047179	0	0
TRRAP	8295	broad.mit.edu	37	7	98601834	98601834	+	Missense_Mutation	SNP	G	G	C			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:98601834G>C	ENST00000359863.4	+	67	10498	c.10289G>C	c.(10288-10290)gGa>gCa	p.G3430A	TRRAP_ENST00000355540.3_Missense_Mutation_p.G3401A|TRRAP_ENST00000446306.3_Missense_Mutation_p.G3419A	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3430					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGCGTTCCAGGATCCATGAAG	0.383000													19	194					0	0	0.00152264	0	0
CD163L1	283316	broad.mit.edu	37	12	7559384	7559384	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:7559384C>T	ENST00000313599.3	-	5	888	c.831G>A	c.(829-831)ctG>ctA	p.L277L	CD163L1_ENST00000396630.1_Silent_p.L277L|CD163L1_ENST00000416109.2_Silent_p.L287L			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	277	SRCR 3.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CTTGGATTTTCAGCTCTACTC	0.478000													49	116					0	0	0.000781405	0	0
DPY19L2P2	349152	broad.mit.edu	37	7	102912190	102912190	+	RNA	SNP	T	T	G			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:102912190T>G	ENST00000312132.4	-	0	2389																											TCTGGATAAATATGGAAGCGT	0.343000													4	67					0	0	0.00024832	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156918202	156918202	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:156918202G>A	ENST00000368194.3	-	23	3053	c.2014C>T	c.(2014-2016)Cgc>Tgc	p.R672C	ARHGEF11_ENST00000315174.8_Missense_Mutation_p.R48C|ARHGEF11_ENST00000361409.2_Missense_Mutation_p.R632C	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	632					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTGCGAGAGCGGGGCACGTTC	0.622000													16	69					0	0	0.000422831	0	0
RIN2	54453	broad.mit.edu	37	20	19955746	19955746	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr20:19955746C>T	ENST00000255006.6	+	8	1373	c.1224C>T	c.(1222-1224)ccC>ccT	p.P408P	RIN2_ENST00000440354.2_Intron|RIN2_ENST00000484638.1_3'UTR	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	359					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						TCCCTCCACCCCGGCTGAAGA	0.607000													11	39					0	0	0.000673444	0	0
EPHB6	2051	broad.mit.edu	37	7	142566054	142566054	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:142566054C>T	ENST00000392957.2	+	14	2761	c.1974C>T	c.(1972-1974)atC>atT	p.I658I	EPHB6_ENST00000442129.1_Silent_p.I658I|EPHB6_ENST00000411471.2_Silent_p.I381I	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	658						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GTCAGGCCATCCGAGAACTTG	0.562000													24	55					0	0	0.000586117	0	0
TUT1	64852	broad.mit.edu	37	11	62343079	62343079	+	Silent	SNP	G	G	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:62343079G>T	ENST00000476907.1	-	9	2803	c.2112C>A	c.(2110-2112)gcC>gcA	p.A704A	TUT1_ENST00000308436.7_Silent_p.A742A|MIR3654_ENST00000496634.2_Intron			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	704					mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GGCTCTGCATGGCCCAGTCCT	0.637000													9	213					0.000442599	0.00247653	0.000442599	1	0
GPR137	56834	broad.mit.edu	37	11	64056683	64056683	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:64056683C>T	ENST00000411458.1	+	9	1302	c.1274C>T	c.(1273-1275)cCc>cTc	p.P425L	GPR137_ENST00000539851.1_3'UTR|GPR137_ENST00000377702.4_3'UTR|GPR137_ENST00000313074.3_Missense_Mutation_p.P367L|GPR137_ENST00000438980.2_3'UTR	NM_001170726.1	NP_001164197.1	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	367						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						CCTCCCTCCCCCACAGAATAC	0.647000													10	38					0	0	0.000442599	0	0
EPDR1	54749	broad.mit.edu	37	7	37960619	37960619	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:37960619C>T	ENST00000199448.4	+	1	457	c.78C>T	c.(76-78)acC>acT	p.T26T	EPDR1_ENST00000476620.1_Intron|EPDR1_ENST00000559325.1_Silent_p.T146T|EPDR1_ENST00000423717.1_Silent_p.T26T	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	26					cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						GGGCCTGGACCCTGTGCGGCC	0.761000													6	10					0	0	0.00116845	0	0
ANKRD50	57182	broad.mit.edu	37	4	125631414	125631414	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr4:125631414C>T	ENST00000504087.1	-	2	1290	c.253G>A	c.(253-255)Gcc>Acc	p.A85T	ANKRD50_ENST00000515641.1_Intron	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	85										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GTACATAGGGCCGTCTTGCCA	0.502000													11	39					0	0	0.000151284	0	0
KRT34	3885	broad.mit.edu	37	17	39538518	39538518	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:39538518G>A	ENST00000394001.1	-	1	137	c.107C>T	c.(106-108)tCc>tTc	p.S36F		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	36	Head.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				ACAGGTAATGGAAAAGCAGGT	0.582000													23	26					0	0	0.00047179	0	0
GPR128	84873	broad.mit.edu	37	3	100354664	100354664	+	Silent	SNP	A	A	C			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:100354664A>C	ENST00000273352.3	+	5	859	c.591A>C	c.(589-591)tcA>tcC	p.S197S	GPR128_ENST00000475887.1_5'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	197					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GAAATGCTTCACCTGAGGTAA	0.368000													4	20					0	0	0.00024832	0	0
ABCD3	5825	broad.mit.edu	37	1	94964161	94964161	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:94964161C>T	ENST00000370214.4	+	17	1414	c.1390C>T	c.(1390-1392)Cga>Tga	p.R464*	ABCD3_ENST00000454898.2_Nonsense_Mutation_p.R488*|ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000394233.2_Nonsense_Mutation_p.R354*|ABCD3_ENST00000536817.1_Nonsense_Mutation_p.R391*	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	464	ABC transporter.				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TTTTCAGGTTCGATCTGGGGC	0.338000													9	21					0	0	0.000978159	0	0
OPN5	221391	broad.mit.edu	37	6	47754302	47754302	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:47754302G>A	ENST00000489301.2	+	2	267	c.182G>A	c.(181-183)cGa>cAa	p.R61Q	OPN5_ENST00000371211.2_Missense_Mutation_p.R61Q|OPN5_ENST00000393699.2_Missense_Mutation_p.R61Q			Q6U736	OPN5_HUMAN	opsin 5	61					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						TCTTCTAGACGAAAGAAGAAG	0.378000													27	45					0	0	0.000586117	0	0
SLC22A6	9356	broad.mit.edu	37	11	62744811	62744811	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:62744811G>A	ENST00000377871.3	-	9	1676	c.1410C>T	c.(1408-1410)atC>atT	p.I470I	SLC22A6_ENST00000360421.4_Silent_p.I470I|SLC22A6_ENST00000458333.2_Intron|SLC22A6_ENST00000421062.2_Intron	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	470					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GTGGGCTCACGATGCTGCCCA	0.622000													6	25					0	0	8.12818e-05	0	0
ZNF337	26152	broad.mit.edu	37	20	25656459	25656459	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr20:25656459C>T	ENST00000376436.1	-	4	2004	c.1465G>A	c.(1465-1467)Gga>Aga	p.G489R	RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000252979.5_Missense_Mutation_p.G489R|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.G457R|RP4-694B14.5_ENST00000439498.1_RNA					zinc finger protein 337											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCCCGACATCCATAAGGCTTC	0.498000													35	105					0	0	0.000491102	0	0
SLC2A14	144195	broad.mit.edu	37	12	7970528	7970528	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:7970528C>T	ENST00000543909.1	-	15	2002	c.1243G>A	c.(1243-1245)Gaa>Aaa	p.E415K	SLC2A14_ENST00000542505.1_Missense_Mutation_p.E56K|SLC2A14_ENST00000396589.2_Missense_Mutation_p.E415K|SLC2A14_ENST00000535295.1_Missense_Mutation_p.E306K|SLC2A14_ENST00000431042.2_Missense_Mutation_p.E392K|SLC2A14_ENST00000542546.1_Missense_Mutation_p.E306K|SLC2A14_ENST00000340749.5_Missense_Mutation_p.E392K|SLC2A14_ENST00000539924.1_Missense_Mutation_p.E430K			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	415					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	p.E415K(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		CTGAAGAGTTCGGCCACAATA	0.557000													16	51					0	0	0.00074312	0	0
PCDHB18P	54660	broad.mit.edu	37	5	140616448	140616448	+	RNA	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr5:140616448C>T	ENST00000526308.1	+	0	2511					NR_001281.1															endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						TTCCCAATCTCCTGTCCCGCG	0.517000													18	10					0	0	0.00074312	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7518552	7518552	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:7518552C>T	ENST00000593531.1	+	10	1364	c.1364C>T	c.(1363-1365)tCc>tTc	p.S455F	ARHGEF18_ENST00000359920.6_Silent_p.L497L|ARHGEF18_ENST00000319670.9_Silent_p.L339L																							AGCGGCAGCTCCACCTGGAGG	0.582000													8	53					0	0	0.000442599	0	0
KCNV1	27012	broad.mit.edu	37	8	110984881	110984881	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr8:110984881G>A	ENST00000524391.1	-	3	1629	c.597C>T	c.(595-597)atC>atT	p.I199I	KCNV1_ENST00000297404.1_Silent_p.I199I			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	199						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GTTTCTCCAGGATATTCCAGA	0.498000													14	43					0	0	0.000151284	0	0
SLC6A17	388662	broad.mit.edu	37	1	110740760	110740760	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:110740760C>T	ENST00000331565.4	+	12	2363	c.1878C>T	c.(1876-1878)gtC>gtT	p.V626V		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	626					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		CCCTCATCGTCGTGGCGACGC	0.637000													8	6					0	0	0.000274275	0	0
MBD5	55777	broad.mit.edu	37	2	149247862	149247862	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:149247862C>T	ENST00000407073.1	+	12	4959	c.3962C>T	c.(3961-3963)tCc>tTc	p.S1321F	MBD5_ENST00000404807.1_Missense_Mutation_p.S1554F	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1321						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TCTCCAAGTTCCTCAAATAGT	0.458000													17	31					0	0	0.000422831	0	0
AC010731.4	0	broad.mit.edu	37	2	207509006	207509006	+	RNA	SNP	T	T	C			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:207509006T>C	ENST00000543490.1	+	0	221																											CCCCTTGAGCTTCACCTGCTC	0.527000													7	15					0	0	0.000157383	0	0
SLC17A1	6568	broad.mit.edu	37	6	25799114	25799114	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:25799114G>A	ENST00000244527.4	-	12	1418	c.1303C>T	c.(1303-1305)Ctg>Ttg	p.L435L	SLC17A1_ENST00000476801.1_Silent_p.L435L|SLC17A1_ENST00000468082.1_Silent_p.L381L|SLC17A1_ENST00000427328.1_Silent_p.L381L	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	435					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						GCTGCCATCAGGATGAAGGTT	0.358000													16	34					0	0	0.000422831	0	0
GLYAT	10249	broad.mit.edu	37	11	58477266	58477266	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:58477266C>T	ENST00000344743.3	-	6	1005	c.864G>A	c.(862-864)tgG>tgA	p.W288*	GLYAT_ENST00000529732.1_Nonsense_Mutation_p.W288*	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	288					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	TCCACTGGTTCCAGCTTCTGG	0.448000													25	82					0	0	0.000339439	0	0
LILRB1	10859	broad.mit.edu	37	19	55143633	55143633	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:55143633G>A	ENST00000396331.1	+	6	963	c.606G>A	c.(604-606)tcG>tcA	p.S202S	LILRB1_ENST00000396321.2_Silent_p.S202S|LILRB1_ENST00000396332.4_Silent_p.S202S|LILRB1_ENST00000434867.2_Silent_p.S202S|LILRB1_ENST00000396317.1_Silent_p.S202S|LILRB1_ENST00000448689.1_Silent_p.S202S|LILRB1_ENST00000396327.3_Silent_p.S202S|LILRB1_ENST00000324602.7_Silent_p.S202S|LILRB1_ENST00000418536.2_Silent_p.S202S|LILRB1_ENST00000396315.1_Silent_p.S202S|LILRB1_ENST00000427581.2_Silent_p.S238S	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	202	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CTTATGACTCGAACTCTCCCT	0.602000										HNSCC(37;0.09)			17	61					0	0	0.00121646	0	0
ACVR2A	92	broad.mit.edu	37	2	148657389	148657389	+	Missense_Mutation	SNP	T	T	G			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:148657389T>G	ENST00000241416.7	+	4	1086	c.450T>G	c.(448-450)atT>atG	p.I150M	ACVR2A_ENST00000404590.1_Missense_Mutation_p.I150M|AC009480.3_ENST00000402410.2_RNA|ACVR2A_ENST00000535787.1_Missense_Mutation_p.I42M	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	150					activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TTATGTTAATTGCGGGGATTG	0.438000													69	106					0	0	0.000781405	0	0
NFASC	23114	broad.mit.edu	37	1	204953262	204953262	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:204953262G>A	ENST00000367172.4	+	22	2906	c.2578G>A	c.(2578-2580)Gag>Aag	p.E860K	NFASC_ENST00000513543.1_Missense_Mutation_p.E856K|NFASC_ENST00000367170.4_Missense_Mutation_p.E860K|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000367171.4_Missense_Mutation_p.E845K|NFASC_ENST00000338586.6_Missense_Mutation_p.E860K|NFASC_ENST00000404076.1_Missense_Mutation_p.E839K|NFASC_ENST00000339876.6_Intron|NFASC_ENST00000539706.1_Missense_Mutation_p.E856K|NFASC_ENST00000360049.4_Missense_Mutation_p.E856K|NFASC_ENST00000401399.1_Intron|NFASC_ENST00000338515.6_Missense_Mutation_p.E860K|NFASC_ENST00000404907.1_Missense_Mutation_p.E856K			O94856	NFASC_HUMAN	neurofascin	860	Fibronectin type-III 3.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCAGCTCAGAGAGTACCGAGT	0.552000													6	30					0	0	0.00116845	0	0
FILIP1	27145	broad.mit.edu	37	6	76023520	76023520	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:76023520G>A	ENST00000393004.2	-	5	2249	c.2028C>T	c.(2026-2028)ttC>ttT	p.F676F	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Silent_p.F577F|FILIP1_ENST00000237172.7_Silent_p.F676F			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	676								p.F676F(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GTTGAGAGAGGAAGTTAGCCT	0.433000													54	107					0	0	0.000781405	0	0
TRPV6	55503	broad.mit.edu	37	7	142569553	142569553	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:142569553C>T	ENST00000359396.3	-	15	2330	c.2085G>A	c.(2083-2085)tgG>tgA	p.W695*		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	695	Interaction with calmodulin.				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GAAGCCTTTCCCAATTGGCAC	0.577000													43	55					0	0	0.000374591	0	0
LOC220729	220729	broad.mit.edu	37	3	197348629	197348629	+	RNA	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:197348629G>A	ENST00000418868.1	-	0	630					NR_003266.2																						CCACACAGCAGCACCGATGGG	0.562000													5	28					0	0	0.000602214	0	0
OR7D4	125958	broad.mit.edu	37	19	9325330	9325330	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:9325330A>G	ENST00000308682.2	-	1	212	c.184T>C	c.(184-186)Ttc>Ctc	p.F62L		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						TTGGAGAGGAAGAAGTACATG	0.542000													13	41					0	0	0.000219431	0	0
APCS	325	broad.mit.edu	37	1	159558215	159558215	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:159558215G>T	ENST00000255040.2	+	2	486	c.389G>T	c.(388-390)gGg>gTg	p.G130V		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	130	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					TGGATCAATGGGACACCTTTG	0.483000													10	62					6.40141e-05	0.000359834	0.000978159	1	0
NEGR1	257194	broad.mit.edu	37	1	72163761	72163761	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:72163761C>T	ENST00000357731.4	-	4	836	c.597G>A	c.(595-597)ggG>ggA	p.G199G	NEGR1_ENST00000434200.1_Intron|NEGR1_ENST00000306821.3_Silent_p.G71G|NEGR1_ENST00000467479.1_5'UTR	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	199	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		ATTCATATTCCCCAGCCTGGT	0.368000													28	21					0	0	0.00127121	0	0
PTPN4	5775	broad.mit.edu	37	2	120702675	120702675	+	Silent	SNP	A	A	G			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:120702675A>G	ENST00000263708.2	+	16	2145	c.1374A>G	c.(1372-1374)ggA>ggG	p.G458G	PTPN4_ENST00000544261.1_Silent_p.G91G	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	458						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	AGACCCCTGGAGATGGGAAGC	0.363000													13	55					0	0	0.000219431	0	0
SYNJ2	8871	broad.mit.edu	37	6	158505156	158505156	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:158505156C>T	ENST00000355585.4	+	22	3233	c.3158C>T	c.(3157-3159)cCc>cTc	p.P1053L	SYNJ2_ENST00000367121.3_Missense_Mutation_p.P1053L|SYNJ2_ENST00000367122.2_Missense_Mutation_p.P1053L|SYNJ2_ENST00000367112.1_Missense_Mutation_p.P138L	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1053							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CTGGCTCCTCCCAGCAAGTCA	0.557000													30	82					0	0	0.000409698	0	0
ARID5B	84159	broad.mit.edu	37	10	63851334	63851334	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:63851334C>T	ENST00000279873.7	+	10	2522	c.2112C>T	c.(2110-2112)ctC>ctT	p.L704L	ARID5B_ENST00000309334.5_Silent_p.L461L	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	704					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GGGCCAGCCTCTCCAGCAGCT	0.532000													17	29					0	0	0.00074312	0	0
PM20D1	148811	broad.mit.edu	37	1	205814641	205814641	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:205814641C>T	ENST00000367136.4	-	3	345	c.301G>A	c.(301-303)Gtg>Atg	p.V101M	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	101						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			TACTCTTCCACGACTTCATGC	0.507000													40	47					0	0	0.000437636	0	0
TPO	7173	broad.mit.edu	37	2	1497795	1497795	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:1497795C>T	ENST00000345913.4	+	11	2081	c.1990C>T	c.(1990-1992)Ctg>Ttg	p.L664L	TPO_ENST00000382198.1_Silent_p.L491L|TPO_ENST00000382201.3_Silent_p.L607L|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000349624.3_Silent_p.L491L|TPO_ENST00000346956.3_Silent_p.L664L|TPO_ENST00000337415.3_Silent_p.L664L|TPO_ENST00000329066.4_Silent_p.L664L	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	664					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GATGAAGGCTCTGCGGGACGG	0.582000													10	30					0	0	0.00136819	0	0
TTLL6	284076	broad.mit.edu	37	17	46846537	46846537	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:46846537G>A	ENST00000393382.3	-	15	2631	c.2490C>T	c.(2488-2490)ctC>ctT	p.L830L	TTLL6_ENST00000433608.2_Silent_p.L523L	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	782						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TCTGCAAGAGGAGGGAGGACA	0.567000													15	12					0	0	0.000219431	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319617	21319617	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:21319617C>T	ENST00000583088.1	+	3	1858	c.963C>T	c.(961-963)atC>atT	p.I321I	KCNJ12_ENST00000331718.5_Silent_p.I321I	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CCAATGAGATCCTGTGGGGTC	0.577000										Prostate(3;0.18)			28	164					0	0	0.000878237	0	0
NMBR	4829	broad.mit.edu	37	6	142409748	142409748	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:142409748A>T	ENST00000258042.1	-	1	188	c.48T>A	c.(46-48)aaT>aaA	p.N16K	RP11-137J7.2_ENST00000454401.1_RNA	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	16					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		AACCGCTCTCATTCGCGCCGG	0.617000													6	15					0	0	0.000157383	0	0
DEFB119	245932	broad.mit.edu	37	20	29965143	29965143	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr20:29965143G>A	ENST00000376321.3	-	2	280	c.161C>T	c.(160-162)tCc>tTc	p.S54F	DEFB119_ENST00000492344.1_5'UTR|DEFB119_ENST00000339144.3_3'UTR	NM_153289.2	NP_695021.2	Q8N690	DB119_HUMAN	defensin, beta 119	54					defense response to bacterium	extracellular region				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GAGGCAGCAGGACTGACAATT	0.483000													118	99					0	0	0.000781405	0	0
NBL1	4681	broad.mit.edu	37	1	19969884	19969884	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:19969884G>A	ENST00000289749.2	+	1	159	c.79G>A	c.(79-81)Gga>Aga	p.G27R	MINOS1-NBL1_ENST00000602662.1_Intron	NM_182744.3	NP_877421.2	P41271	NBL1_HUMAN	neuroblastoma 1, DAN family BMP antagonist	0						extracellular region				lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00043)|Ovarian(437;0.00373)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.9e-05)|Kidney(64;0.000173)|GBM - Glioblastoma multiforme(114;0.0012)|KIRC - Kidney renal clear cell carcinoma(64;0.0026)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TAAAACACATGGACACAGGTA	0.507000													16	17					0	0	0.00121646	0	0
CDH23	64072	broad.mit.edu	37	10	73447448	73447448	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:73447448C>T	ENST00000224721.6	+	18	2051	c.2046C>T	c.(2044-2046)ttC>ttT	p.F682F	CDH23_ENST00000299366.7_Silent_p.F722F	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	677	Cadherin 7.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCGCCTACTTCGTCTCCGTGG	0.627000													4	17					0	0	0.000602214	0	0
MGAT5B	146664	broad.mit.edu	37	17	74868898	74868898	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:74868898C>T	ENST00000428789.2	+	1	170	c.67C>T	c.(67-69)Cct>Tct	p.P23S	MGAT5B_ENST00000374998.3_Intron|MGAT5B_ENST00000565675.1_Intron|MGAT5B_ENST00000569840.2_Intron|MGAT5B_ENST00000301618.4_Intron	NM_198955.1	NP_945193.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	13						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GATGGCCCTTCCTGCCCTCCT	0.567000													6	29					0	0	8.12818e-05	0	0
FCGBP	8857	broad.mit.edu	37	19	40411937	40411937	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr19:40411937G>A	ENST00000221347.6	-	7	3698	c.3691C>T	c.(3691-3693)Ccg>Tcg	p.P1231S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1231	Cys-rich.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCCTCGTGCGGTCCGCAGCTG	0.672000													14	27					0	0	0.000422831	0	0
MGMT	4255	broad.mit.edu	37	10	131506261	131506261	+	Silent	SNP	C	C	T	rs112373357		TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:131506261C>T	ENST00000306010.7	+	3	353	c.321C>T	c.(319-321)atC>atT	p.I107I	MGMT_ENST00000462672.1_3'UTR	NM_002412.3	NP_002403.2	B4DEE8	B4DEE8_HUMAN	O-6-methylguanine-DNA methyltransferase	107								p.I76I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		CCGAGGCTATCGAAGAGTTCC	0.597000								Direct reversal of damage					19	53					0	0	0.00121646	0	0
SCN10A	6336	broad.mit.edu	37	3	38770173	38770173	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr3:38770173C>T	ENST00000449082.2	-	15	2499	c.2500G>A	c.(2500-2502)Gac>Aac	p.D834N		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	834					sensory perception	voltage-gated sodium channel complex		p.D834N(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGGAAGAAGTCGTGCATGTGC	0.512000													14	21					0	0	0.000151284	0	0
TG	7038	broad.mit.edu	37	8	133900398	133900398	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr8:133900398C>T	ENST00000220616.4	+	10	2386	c.2346C>T	c.(2344-2346)ttC>ttT	p.F782F	TG_ENST00000377869.1_Silent_p.F782F	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	782	Thyroglobulin type-1 7.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGCAGGTCTTCGAGTTGTACC	0.562000													4	19					0	0	0.00024832	0	0
OR4B1	119765	broad.mit.edu	37	11	48239105	48239105	+	Silent	SNP	T	T	C			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:48239105T>C	ENST00000309562.2	+	1	762	c.744T>C	c.(742-744)ttT>ttC	p.F248F		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TCATCTTGTTTTTTGGACCTG	0.473000													15	51					0	0	0.000422831	0	0
CATSPERB	79820	broad.mit.edu	37	14	92091309	92091309	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr14:92091309C>T	ENST00000256343.3	-	18	1941	c.1785G>A	c.(1783-1785)acG>acA	p.T595T		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	595					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CTTTAGGAGTCGTATGTTGCA	0.343000													12	36					0	0	0.000219431	0	0
EXT1	2131	broad.mit.edu	37	8	118831999	118831999	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr8:118831999G>A	ENST00000378204.2	-	6	2258	c.1452C>T	c.(1450-1452)atC>atT	p.I484I		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	484					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TCACCGCATGGATGACTGCAG	0.517000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses				42	43					0	0	0.000781405	0	0
ITFG3	83986	broad.mit.edu	37	16	314837	314837	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr16:314837C>T	ENST00000399932.3	+	13	1926	c.1475C>T	c.(1474-1476)gCc>gTc	p.A492V	ITFG3_ENST00000442458.2_Intron|ITFG3_ENST00000301678.3_Missense_Mutation_p.A492V|ITFG3_ENST00000600536.1_Intron|ITFG3_ENST00000301679.2_Missense_Mutation_p.A492V|ITFG3_ENST00000450082.2_Missense_Mutation_p.A492V			Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	492						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				AGCCGCCACGCCGCCTACATC	0.672000													8	19					0	0	0.000442599	0	0
NAA16	79612	broad.mit.edu	37	13	41932585	41932585	+	Missense_Mutation	SNP	C	C	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr13:41932585C>A	ENST00000379406.3	+	11	1557	c.1233C>A	c.(1231-1233)ttC>ttA	p.F411L	NAA16_ENST00000379367.3_Missense_Mutation_p.F411L|NAA16_ENST00000403412.3_Missense_Mutation_p.F411L	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	411					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						TAGAATTATTCTATATGAAAG	0.318000													12	67					4.3838e-07	2.47942e-06	0.000151284	1	0
TTC37	9652	broad.mit.edu	37	5	94842677	94842677	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr5:94842677G>A	ENST00000358746.2	-	30	3351	c.3053C>T	c.(3052-3054)aCt>aTt	p.T1018I	TTC37_ENST00000515176.1_5'UTR	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1018							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						AACATTGTAAGTATCTTGGTC	0.313000													37	31					0	0	0.00128727	0	0
ADH7	131	broad.mit.edu	37	4	100349080	100349080	+	Missense_Mutation	SNP	G	G	C			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr4:100349080G>C	ENST00000437033.2	-	5	917	c.414C>G	c.(412-414)caC>caG	p.H138Q	ADH7_ENST00000476959.1_Missense_Mutation_p.H158Q|ADH7_ENST00000482593.1_Missense_Mutation_p.H81Q|ADH7_ENST00000209665.4_Missense_Mutation_p.H150Q			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	150					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	TCATGAAGTGGTGGACTGGTT	0.418000													17	103					0	0	0.00121646	0	0
DSG3	1830	broad.mit.edu	37	18	29037053	29037053	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr18:29037053G>A	ENST00000257189.4	+	3	265	c.182G>A	c.(181-183)gGa>gAa	p.G61E		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	61	Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TGCAGAGAAGGAGAAGATAAC	0.338000													18	22					0	0	0.000566183	0	0
NAB2	4665	broad.mit.edu	37	12	57485769	57485769	+	Silent	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:57485769C>T	ENST00000300131.3	+	2	1323	c.945C>T	c.(943-945)ctC>ctT	p.L315L	NAB2_ENST00000357680.4_Silent_p.L315L|NAB2_ENST00000342556.6_Silent_p.L315L	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	315	NCD2.				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GCAAGCAGCTCAGCCTGCACG	0.547000													10	36					0	0	0.000442599	0	0
CREB5	9586	broad.mit.edu	37	7	28609991	28609991	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr7:28609991G>A	ENST00000357727.2	+	5	690	c.300G>A	c.(298-300)tcG>tcA	p.S100S	CREB5_ENST00000409603.1_Silent_p.S67S|CREB5_ENST00000396299.2_Silent_p.S67S|CREB5_ENST00000396300.2_Silent_p.S93S	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	100					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						AGAATATCTCGATGCATAATG	0.517000													142	236					0	0	0.000781405	0	0
LRP4	4038	broad.mit.edu	37	11	46900852	46900852	+	Silent	SNP	G	G	A			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr11:46900852G>A	ENST00000378623.1	-	21	3071	c.2829C>T	c.(2827-2829)agC>agT	p.S943S		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	943					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GGGGGAGCTGGCTTCCAATCA	0.562000													16	25					0	0	0.000958276	0	0
KIAA1462	57608	broad.mit.edu	37	10	30318722	30318722	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr10:30318722C>T	ENST00000375377.1	-	3	456	c.355G>A	c.(355-357)Gga>Aga	p.G119R		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	119										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCTTGCCGTCCTCTTCTCCGG	0.577000													13	41					0	0	0.00136819	0	0
CCDC28B	79140	broad.mit.edu	37	1	32670247	32670248	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr1:32670247_32670248delTG	ENST00000421922.2	+	5	674_675	c.574_575delTG	c.(574-576)tfs	p.C192fs	CCDC28B_ENST00000483009.1_Intron|CCDC28B_ENST00000373602.5_Intron			Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	0										large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AACCCGTCTATGTGTGTGTGTT	0.500													7	158	---	---	---	---					
AC027612.3	0	broad.mit.edu	37	2	91899626	91899626	+	RNA	DEL	A	A	-			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr2:91899626delA	ENST00000436174.1	-	0	168																											CCAGAGGCTCAAAAAAAAAAA	0.289													3	4	---	---	---	---					
ATXN1	6310	broad.mit.edu	37	6	16327864	16327865	+	In_Frame_Ins	INS	-	-	TGC			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr6:16327864_16327865insTGC	ENST00000244769.4	-	8	1613_1614	c.677_678insGCA	c.(676-678)cct>cGCAct	p.226_226P>RT	ATXN1_ENST00000436367.1_In_Frame_Ins_p.226_226P>RT	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	226					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CCCTGCTGAGGtgctgctgctg	0.653													4	4	---	---	---	---					
HEY1	23462	broad.mit.edu	37	8	80677926	80677927	+	In_Frame_Ins	INS	-	-	GTT			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr8:80677926_80677927insGTT	ENST00000337919.5	-	5	616_617	c.423_424insAAC	c.(421-426)tatgag>taAACtgag	p.141_141Y>*T	HEY1_ENST00000523976.1_In_Frame_Ins_p.47_47Y>*T|HEY1_ENST00000354724.3_In_Frame_Ins_p.137_137Y>*T|HEY1_ENST00000435063.2_5'UTR	NM_001040708.1	NP_001035798.1	Q9Y5J3	HEY1_HUMAN	hes-related family bHLH transcription factor with YRPW motif 1	137	Orange.				angiogenesis|negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|transcription, DNA-dependent	nucleus	DNA binding|protein binding		HEY1/NCOA2(10)	cervix(1)|kidney(2)|large_intestine(5)|lung(14)	22	all_lung(9;5.1e-05)		Epithelial(68;0.076)|all cancers(69;0.179)			ATGATGCTCAGATAACGCGCAA	0.530			T	NCOA2	mesenchymal chondrosarcoma						OREG0018837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	67	---	---	---	---					
TENC1	23371	broad.mit.edu	37	12	53449380	53449380	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr12:53449380delA	ENST00000314250.6	+	9	892	c.602delA	c.(601-603)ctfs	p.H201fs	TENC1_ENST00000379902.3_Frame_Shift_Del_p.H77fs|TENC1_ENST00000552570.1_Frame_Shift_Del_p.H201fs|TENC1_ENST00000549700.1_Frame_Shift_Del_p.H201fs|TENC1_ENST00000546602.1_Frame_Shift_Del_p.H201fs|TENC1_ENST00000451358.1_Frame_Shift_Del_p.H201fs|TENC1_ENST00000314276.3_Frame_Shift_Del_p.H211fs	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	201	Phosphatase tensin-type.				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CCTGAGCTGCATGCTCCACCC	0.612													30	35	---	---	---	---					
YY1	7528	broad.mit.edu	37	14	100705788	100705790	+	In_Frame_Del	DEL	CCA	CCA	-	rs76675246		TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr14:100705788_100705790delCCA	ENST00000262238.4	+	1	467_469	c.207_209delCCA	c.(205-210)ggc>gg	p.GH69del		NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	69	Gly-rich.				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				gGCACGCCGGccaccaccaccac	0.724													3	6	---	---	---	---					
CYP19A1	1588	broad.mit.edu	37	15	51503156	51503163	+	Frame_Shift_Del	DEL	AGTGTAAC	AGTGTAAC	-	rs141305220	byFrequency	TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr15:51503156_51503163delAGTGTAAC	ENST00000396402.1	-	10	1507_1514	c.1354_1361delGTTACACT	c.(1354-1362)tfs	p.VTL452fs	CYP19A1_ENST00000559878.1_Frame_Shift_Del_p.VTL452fs|CYP19A1_ENST00000260433.2_Frame_Shift_Del_p.VTL452fs|CYP19A1_ENST00000396404.4_Frame_Shift_Del_p.VTL452fs|RP11-108K3.1_ENST00000559909.1_lincRNA	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	452					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	TCGTCTCAGAAGTGTAACGAGGATGGCT	0.462													22	44	---	---	---	---					
ABCA8	10351	broad.mit.edu	37	17	66871424	66871425	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-DA-A1I7-06A-22D-A197-08	TCGA-DA-A1I7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c80758ba-28fe-407c-acff-f0d3a8777bf4	443a2c82-82b4-4b1f-851c-ae271bf0b5d7	g.chr17:66871424_66871425delGA	ENST00000269080.2	-	35	4624_4625	c.4487_4488delTC	c.(4486-4488)tfs	p.F1496fs	ABCA8_ENST00000430352.2_Frame_Shift_Del_p.F1536fs|ABCA8_ENST00000586539.1_Frame_Shift_Del_p.F1536fs	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1496						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			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)					CAGCCTGGGGGAAAAGCCTCAG	0.465													35	76	---	---	---	---					
